Impact of workplace bullying on work engagement among early career employees.

This study aims to measure the impact of workplace bullying on work engagement in terms of employee silence and knowledge sharing. It also helps to explain how psychological contract breach moderates the bullying-silence relationship. For this study, data is collected from 384 early-career employees having experience up to three years from seven banks of Lahore, Pakistan. Findings of this study reveals that workplace bullying has a positive relationship with employee silence and negative relationship with work engagement. Results of all moderation and mediated variables are significantly related to each other. However, the results explain that a psychological contract breach slightly moderates the bullying-silence relationship. Survey-based questionnaire, cross-sectional research design, and convenience-based sampling technique are some of the limitations of this study. This is the first study that tried to investigate the bullying-engagement relationship among early-career employees in the banking sector of Lahore, Pakistan. This study may help practitioners and policymakers to develop anti-bullying laws that can support the management in overcoming the negative workplace environment. This study aims to promote an equal opportunity for all employees where they can raise their voices about misconduct. This is the first study that investigated the victimization of bullying behavior among early-career employees in a Pakistani cultural context.

Unraveling the draft genome and phylogenomic analysis of a multidrug-resistant Planococcus sp. NCCP-2050T: a promising novel bacteria from Pakistan.

Planococcus is a genus of Gram-positive bacteria known for potential industrial and agricultural applications. Here, we report the first draft genome sequence and phylogenomic analysis of a CRISPR-carrying, multidrug-resistant, novel candidate Planococcus sp. NCCP-2050T isolated from agricultural soil in Pakistan. The strain NCCP-2050T exhibited significant resistance to various classes of antibiotics, including fluoroquinolones (i.e., ciprofloxacin, levofloxacin, ofloxacin, moxifloxacin, and bacitracin), cephalosporins (cefotaxime, ceftazidime, cefoperazone), rifamycins (rifampicin), macrolides (erythromycin), and glycopeptides (vancomycin). Planococcus sp. NCCP-2050T consists of genome size of 3,463,905 bp, comprised of 3639 annotated genes, including 82 carbohydrate-active enzyme genes and 39 secondary metabolite genes. The genome also contained 80 antibiotic resistance, 162 virulence, and 305 pathogen-host interaction genes along with two CRISPR arrays. Based on phylogenomic analysis, digital DNA-DNA hybridization, and average nucleotide identity values (i.e., 35.4 and 88.5%, respectively) it was suggested that strain NCCP-2050T might represent a potential new species within the genus Planococcus. Supplementary Information: The online version contains supplementary material available at 10.1007/s13205-023-03748-z.

Cytotoxic and genotoxic evaluation of bisphenol S on onion root tips by Allium cepa and comet tests.

Bisphenol S (BPS) is an analog of bisphenol A, which is used as substitute of BPA in many products like airport luggage tags, baby bottles, plastics, and epoxy resins etc. Bisphenol S can cause toxic effects in different organisms, i.e., mice, rat, zebrafish, and C.elegans, etc. Bisphenol S is also known as "endocrine disruptor" due to its ability to mimic the endocrine receptors. So, the aim of this study was to evaluate the cytotoxic and genotoxic effects of bisphenol S on meristematic cells present in onion root tips through Allium cepa (A.cepa) and comet tests. Root growth inhibition was evaluated by root growth inhibition assay. Mitotic index (MI) and chromosomal aberrations (CAs) were assessed by A.cepa assay. DNA damage was evaluated by comet assay. Root growth of A.cepa was inhibited due to bisphenol S. LC50 value calculated by root growth inhibition assay for bisphenol S was (2.6±0.63, 50 µg/ml). Mitotic index was reduced, and chromosomal aberrations were observed, i.e., stickiness, polyploidy, and disturbed ana-telophase in anaphase and telophase stages of mitosis. In case of comet assay, DNA damage was increased in statistically significant manner (p ≤ 0.05). It was concluded that bisphenol S constitutes cytotoxic and genotoxic effects on A. cepa root meristematic cells. Moreover, it is suggested to explore more toxicity studies of bisphenol S at molecular level.

Acetochlor Affects Bighead Carp (Aristichthys Nobilis) by Producing Oxidative Stress, Lowering Tissue Proteins, and Inducing Genotoxicity.

Acetochlor is persistently used in the agroproduction sector to control broadleaf weeds. Due to frequent and continuous applications, this herbicide can reach nearby water bodies and may induce deleterious changes in aquatic life. Therefore, investigation of harmful impacts of different environmental pollutants, including herbicides, is vital to knowing the mechanisms of toxicity and devising control strategies. The current experiment included bighead carp (n = 80) to estimate adverse impacts. Fish were randomly placed in 4 different experimental groups (T0-T3) and were treated for 36 days with acetochlor at 0, 300, 400, and 500 µg/L. Fresh blood without any anticoagulant was obtained and processed for nuclear and morphological changes in erythrocytes. At the same time, various visceral organs, including the gills, liver, brain, and kidneys, were removed and processed on days 12, 24, and 36 to determine oxidative stress and various antioxidant biomarkers. Comet assays revealed significantly increased DNA damage in isolated cells of the liver, kidneys, brain, and gills of treated fish. We recorded increased morphological and nuclear changes (P ≤ 0.05) in the erythrocyte of treated fish. The results on oxidative stress showed a higher quantity of oxidative biomarkers and a significantly (P ≤ 0.05) low concentration of cellular proteins in the gills, liver, brain, and kidneys of treated fish compared to unexposed fish. Our research findings concluded that acetochlor renders oxidative stress in bighead carp.

Evaluation of Effect of Honey Sugars Analogue Therapy against Breast Cancer Induced by 1-Methyl-1-nitrosourea in In Vivo Breast Cancer Model.

The use of honey as a complementary and alternative medicine is associated with vast range of therapeutic promises. It is established that it exhibits potential innumerable medicinal effects which is attributed to it phenolic, flavonoids, and other diverse compounds profile. However, the effect of honey sugars analogue as its major constituent has not been investigated. This study examined the effect of honey sugars analogue (HSA) namely fructose, glucose, maltose, and sucrose in breast cancer-induced albino Sprague-Dawley (SD) rat models. The treatment was administered when first palpable tumour reached 10-12 mm in size by dividing nulliparous rats (n = 30) into following groups: Group 0 (negative control, n = 10), Group 1 (positive control, n = 10), and Group 2 (received 1.0 g/kg body HSA, n = 10) over a period of 120 days. The effect of treatment against breast cancer was observed with a slower tumour progression, a lower median tumour size, multiplicity, and weight (p < 0.05). The anticancer effect was through amelioration of tumour growth, tumour grading, and haematological parameters. Data also show that HSA administration induces an increased susceptibility of expression of proapoptotic proteins such as Apaf-1, caspase-9, IFN-γ, IFNGR1, and p53, and a reduced expression of antiapoptotic proteins such as E2, ESR1, TNF-α, COX-2, and Bcl-xL 1 in their mechanisms of action. HSA behaves akin to honey. Thus, HSA may modulate breast cancer as an analogue or major profile of honey.

Comparing the effects of muscle energy technique and mulligan mobilization with movements on pain, range of motion, and disability in adhesive capsulitis.

OBJECTIVES: To compare the effect of muscle energy technique and Mulligan mobilisation with movement on pain, range of motion and disability in patients of adhesive capsulitis. METHODS: The single-blind, randomised controlled study was conducted at the Physiotherapy Department of Mayo Hospital, Lahore, Pakistan, from July to December, 2018, and comprised patients of either gender aged 30-70 years with adhesive capsulitis stage 2. The subjects were randomised using the lottery method into Mulligan mobilisation with movement group A, and the muscle energy technique grouo B. Conventional treatment, including hot packs and exercises like pulley rope exercise, wall climbing, and shoulder wheel, were part of both the groups. Each technique was applied five times per set, 2 sets per session 3 days a week for three weeks. Baseline and post-intervention readings were recorded for pain, range of motion and disability Using numeric pain rating scale, goniometer, and shoulder pain and disability index. Data was analysed using SPSS 23. RESULTS: Of the 70 individuals assessed, 64(91.4%) were included; 32(50%) in each of the two groups. The mean age in group A was 49.93±6.69 years, while in group B it was 49.17±8.92 years. Group A showed significantly better results compared to group B (p<0.05). CONCLUSIONS: Muscle energy technique and Mulligan mobilisation with movement were both found to be effective, but the latter was significantly better compared to the former. CLINICAL TRIAL NUMBER: IRCT20200611047734N2 (https://www.irct.ir/trial/48851).

Penicillium fellutanum lipase as a green and ecofriendly biocatalyst for depolymerization of poly (ɛ-caprolactone): Biochemical, kinetic, and thermodynamic investigations.

Microbial lipases hold a prominent position in biocatalysis by their capability to mediate reactions in aqueous and nonaqueous media. Herein, a lipase from Penicillium fellutanum was biochemically characterized and investigated its potential to degrade poly (ɛ-caprolactone) (PCL). The lipase exhibited stability over a broad pH spectrum and performed best at pH 8.5 and 45 °C. The activation energy was determined to be 66.37 kJ/mol by Arrhenius plot, whereas Km and Vmax for pNPP hydrolysis were 0.75 mM and 83.33 µmol/mL/Min, respectively. A rise in temperature reduced the Gibbs free energy, whereas the enthalpy of thermal unfolding (∆H*) remains the same up to 54 °C following a modest decline at 61 °C. The entropy (∆S*) of the enzyme demonstrated an increasing trend up to 54 °C and dropped at 61 °C. Lipase retained stability by incubation with various industrially relevant organic solvents (benzene, hexanol, ether, and acetone). However, exposure to urea and guanidine hydrochloride influenced its catalytic activity to different extents. Under optimal operating conditions, lipase catalyzed the excellent degradation of PCL film degradation leading to 66% weight loss, increased surface erosion, and crystallinity. Fourier-transform infrared spectrometry, differential scanning calorimetry, and scanning electron microscopy studies monitored the weight loss after enzymatic hydrolysis. The findings indicate that P. fellutanum lipase would be a prospective biocatalytic system for polyesters depolymerization and environmental remediation.

Evaluation of antidiabetic, antioxidant, and cytotoxic potential of maize (zea mays l.) husk leaf extracts.

In current study, Maize (Zea mays L.) husk leave extracts were appraised for biological activities such as cytotoxicity, antidiabetic, antioxidant and antimicrobial. Maceration was performed to collect various fractions of husk leave extracts using a pool of solvents i.e., n-hexane, chloroform, ethyl acetate, butanol and methanol. Antioxidant potential was measured by 1,1-diphenyl-2-picrylhydrazyl (DPPH) scavenging, reducing power and linoleic acid oxidation assay, using butylated hydroxy toluene (BHT) as a positive control. Total phenolic and flavonoid contents were found to be 18.47-425.11 mg/100 g GAE and 5.83-16.72 mg/100 g CE, respectively. The DPPH scavenging assay was exhibited in the range of 76.36 to 88.53%. The percentage inhibition in linoleic acid oxidation was found from 10.16 to 79.51%. Significant antimicrobial activity was demonstrated by husk leaf extracts against bacterial strains and fungal strains using disc diffusion and minimum inhibitory concentration (MIC) method. Amylase alpha assay was employed to analyze the antidiabetic activity which ranged between 9.52-24.81%. Cytotoxicity was evaluated by % age lysis (0.35-9.54%), while thrombolytic activity ranged between 7.67 to 31.27%. The results presented in this study revealed that maize (Zea mays L.) husk leaf extracts can be a valuable source of biologically active compounds and may be consumed as a source of potent herbal medicine in pharmaceuticals.

Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3.

BACKGROUND: GLI3 is a transcriptional regulator of several genes involved in mammalian skeletal development. Mutations in the pleiotropic gene GLI3 may result in different inherited disorders including Greig cephalopolysyndactyly syndrome (GCPS). GCPS is characterized by mild to severe craniofacial and limb malformations. METHODS AND RESULTS: Here, we report clinical and molecular study of 3 families with GCPS originated in different regions of Pakistan. Sanger sequencing revealed two novel variants including a frameshift [c. 3790_3791InsC, p.(Gly1236Argfs*11)] and a missense [c.1692A>G, p.(His536Arg)], and one previously reported variant [c.1965_1966delAT, p.(His627Glufs*48)] located in 2 different domains of the GLI3. CONCLUSION: This study not only expanded spectrum of the mutations in the GLI3 but also highlighted phenotypic variability in the GCPS patients. This will facilitate diagnosis and genetic counseling of families with same and related disorders in the Pakistani population.

Enhanced Efficacy of Direct-Acting Antivirals in Hepatitis C Patients by Coadministration of Black Cumin and Ascorbate as Antioxidant Adjuvants.

The widespread adaptation of a new generation of direct-acting antiviral agents (DAAs) unveils a superlative effect in the eradication of the hepatitis C virus (HCV). However, this therapy has been reported to exhibit vigorous side effects that pose a risk in fleet recovery. This study was conducted to investigate the efficacy of DAAs: sofosbuvir (SOF) and ribavirin (RBV), along with black cumin (BLC) and ascorbate (ASC), as adjuvants on hematological parameters; oxidative stress markers such as total antioxidant status (TAS), superoxide dismutase (SOD), reduced (GSH) and oxidized (GSSG) glutathione (GSH), gamma-glutamyl transferase (GGT), and malondialdehyde (MDA); liver function markers such as aspartate transaminase (AST), alanine aminotransferase (ALT), bilirubin, and alkaline phosphatase (ALP); and viral load with determined genotypes. HCV-infected patients (n = 30) were randomly divided into two equal groups: control group (n = 15) and treatment group (n = 15). The control group was subjected only to SOF and RBV (400 mg each/day). Synergistically, the treatment group was administered with adjuvant therapy of BLC (250 mg/day) and ASC (1000 mg/day) along with DAAs (400 mg each/day) for 8 weeks. All selected patients were subjected to sampling at pre- and posttreatment stages for the assessment of defined parameters. The data revealed that the BLC/ASC adjuvant therapy boosted the efficacy of DAAs by reducing the elevated levels of liver markers such as AST, ALT, ALP, and bilirubin in the treatment group compared with those in the control group (P > 0.05). The adjuvant therapy synchronously showed an ameliorating effect on hematological parameters. The SOF/RBV with adjuvant therapy also demonstrated an increasing effect in the activity of SOD, TAS, and GSH and a decreasing effect for GSSG, GGT, and malondialdehyde (MDA; P > 0.05) followed by curtailing a RT-PCR-quantified viral load. Our findings provide evidence that systemic administration of BLC/ASC efficiently alleviates hematological, serological, and antioxidant markers as well as the viral load in hepatitis C patients. This highlights a potentially novel role of BLC and ASC in palliating hepatitis C.

Association analysis between ARG1 gene polymorphisms and idiopathic dilated cardiomyopathy.

The current study aimed at investigate the potential association of ARG1 polymorphisms in subjects affected by idiopathic dilated cardiomyopathy (IDCM).We have investigated 352 subjects affected by IDCM and 352 population-matched healthy controls by exploiting case-control study. The serum lipids were quantified using spectrophotometric assay, serum arginase activity was done by enzyme colorimetric assay and 2 polymorphisms (rs2781666 and rs2781667) in ARG1 were typed by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) to find out disease associate allele/haplotype segregating in subjects affected by IDCM.Significantly high arginase activity was found to be associated with IDCM subjects when compared with population-matched healthy controls (P < .0001). The higher arginase level in IDCM subjects is negatively correlated with nitrite and nitrate (r = -0.4687, and r = -0.6435, respectively) in our study. There was a significant difference in the distribution of rs2781666 and rs2781667 genotypes of ARG1 polymorphism in patients and controls (P < .0001). Similarly, variant allele T at both loci showed a significant association with the disease phenotypes (P < .0001). Haplotype TT at rs2781666G/T and rs2781667C/T also showed a significantly association (P < .0001).To our knowledge, this is the first report to show a significant involvement of ARG1 polymorphisms to produce IDCM symptoms in subjects originating in Pakistan.

Peripheral blood microRNA-15a is a potential biomarker for type 2 diabetes mellitus and pre-diabetes.

MicroRNAs (miRNAs) are small non-coding RNAs that function as crucial regulators of gene expression. Recently, dysregulation of miRNA expression in the blood has been demonstrated to be associated with various diseases, including type 2 diabetes mellitus (T2D), suggesting a potential for their use as biomarkers of disease prognosis. The present study examined the expression levels of T2D­associated miR­15a in peripheral whole blood samples from patients with T2D, pre­diabetes individuals exhibiting impaired fasting glucose (IFG) and impaired glucose tolerance (IGT), as well as healthy control subjects, in order to investigate the potential of peripheral blood plasma miR­15a as a biomarker for the prediction of T2D and pre­diabetes. The present study included 24 patients with T2D, 22 IFG/IGT individuals and 24 healthy controls. The expression levels of miR­15a were analyzed by reverse transcription-quantitative polymerase chain reaction. The results indicated that the peripheral blood miR­15a expression levels were significantly decreased in patients with T2D and IFG/IGT individuals, compared with healthy control subjects (P<0.05). As determined by multivariate logistic regression analysis, lower miR­15a expression was significantly associated with T2D (odds ratio [OR]; 95% confidence interval [CI]: 0.51; 0.16­0.73, respectively; P<0.05) and pre­diabetes (OR; 95% CI: 0.56; 0.23­0.79, respectively; P<0.05). This association remained statistically significant following adjustment for age, body mass index and hypertension, as well as other biochemical indicators. Furthermore, a receiver operating characteristic analysis revealed that blood miR­15a distinguished patients with T2D and IFG/IGT individuals from healthy controls (area under the curves; 95% CI: 0.864; 0.751­0.977 and 95% CI: 0.852; 0.752­0.953, respectively). These results demonstrated that peripheral blood miR­15a expression levels were significantly lower in patients with T2D and IFG/IGT individuals, compared with healthy individuals. Thus, miR­15a in peripheral whole blood may serve as a potential biomarker for T2D and pre-diabetes.

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).

BACKGROUND: Anonychia/hyponychia congenita is a rare autosomal recessive developmental disorder characterized by the absence (anonychia) or hypoplasia (hyponuchia) of finger- and/or toenails frequently caused by mutations in the R-spondin 4 (RSPO4) gene. METHODS: Three hypo/anonychia consanguineous Pakistani families were ascertained and genotyped using microsatellite markers spanning the RSPO4 locus on chromosome 20p13. Mutation screening of the RSPO4 gene was carried out by direct sequencing of the entire coding region and all intron-exon boundaries. RESULTS: Mutations in the RSPO4 gene were identified in all families including a novel missense mutation c.178C>T (p.R60W) and two recurrent variants c.353G>A (p.C118Y) and c.3G>A (p.M1I). The c.3G>A variant was identified in unaffected family members and a control sample in a homozygous state. CONCLUSIONS: This study raises to 17 the number of known RSPO4 mutations and further expands the molecular repertoire causing hypo/anonychia. The c.353G>A emerges as a recurrent change with a possible founder effect in the Pakistani population. Our findings suggest that c.3G>A is not sufficient to cause the disorder and could be considered a polymorphism.

Knowledge and awareness of harmful effect of substance abuse among users and non-users: a cross-sectional study from Bari Imam.

OBJECTIVES: To determine the prevalence of substance abuse among adult population of Nurpur Shahan and assess the participants' knowledge and awareness regarding substance abuse. METHODS: This was a cross-sectional study conducted in the households of Nurpur Shahaan, adjacent to Bari Imam on the outskirts of Islamabad, Pakistan, during January 2010. A structured questionnaire was used and 200 adults of ages 18 and above were assessed about their awareness of substance abuse, its social effects and health hazards. All collected data was entered into SPSS ver. 10. The independent variables in the study were age, gender, marital status, social class, education level and knowledge of substance abuse. The dependent variables were substance abuse, type of substance abuse, attitude towards using and attitude towards quitting. RESULTS: Out of the 200 adults consenting to participate in the survey, 65 (33%) were reported to suffer from substance abuse, while 135 (67%) claimed not to be in the habit. Awareness about the dangers of substance abuse was higher among non-users (59.4%) as compared to the users, but 40.6% users continued to use drugs despite knowing that adverse effects would follow. Non-user respondents were more aware of the risks involved (75.8%) than the users (23.4%). It remained unclear whether anxiety and depression were an outcome of addiction or a defence mechanism to perpetuate maladaptive behaviour of substance abuse. CONCLUSIONS: Substance abuse is prevalent among the lower and lower middle classes of Pakistan, with a propensity among male victims, to blame external circumstances, which they feel are beyond their control.

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.

A Mutations in the gene encoding the ABCA12 protein are associated with different subtypes of autosomal recessive congenital ichthyosis (ARCI), including Harlequin ichthyosis (HI), lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE). Disruption of ABCA12 lead to perturbed lipid transport in lamellar granules and a defective intercellular lipid layer of the stratum corneum. We have identified a large consanguineous Pakistani family affected by NCIE. Autozygosity mapping showed that affected individuals are homozygous for the ABCA12 gene region. Subsequent mutation screening revealed a homozygous c.4676G>T transition in all five affected family members. The mutation results in a novel p.G1559V substitution within the first nucleotide binding domain of ABCA12. The combined results support that an ABCA12 missense mutation, despite its location in a functional domain, may be associated with a mild ichthyosis phenotype. Furthermore, our findings increase the mutational spectrum in ABCA12 associated with ARCI of diagnostic and prognostic importance.

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

Inherited and isolated nail malformations are rare and heterogeneous conditions. We identified two consanguineous pedigrees in which some family members were affected by isolated nail dysplasia that suggested an autosomal-recessive inheritance pattern and was characterized by claw-shaped nails, onychauxis, and onycholysis. Genome-wide SNP array analysis of affected individuals from both families showed an overlapping and homozygous region of 800 kb on the long arm of chromosome 8. The candidate region spans eight genes, and DNA sequence analysis revealed homozygous nonsense and missense mutations in FZD(6), the gene encoding Frizzled 6. FZD(6) belongs to a family of highly conserved membrane-bound WNT receptors involved in developmental processes and differentiation through several signaling pathways. We expressed the FZD(6) missense mutation and observed a quantitative shift in subcellular distribution from the plasma membrane to the lysosomes, where the receptor is inaccessible for signaling and presumably degraded. Analysis of human fibroblasts homozygous for the nonsense mutation showed an aberrant response to both WNT-3A and WNT-5A stimulation; this response was consistent with an effect on both canonical and noncanonical WNT-FZD signaling. A detailed analysis of the Fzd(6)(-/-) mice, previously shown to have an altered hair pattern, showed malformed claws predominantly of the hind limbs. Furthermore, a transient Fdz6 mRNA expression was observed in the epidermis of the digital tips at embryonic day 16.5 during early claw morphogenesis. Thus, our combined results show that FZD6 mutations can result in severe defects in nail and claw formation through reduced or abolished membranous FZD(6) levels and several nonfunctional WNT-FZD pathways.

Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.

Hair-nail ectodermal dysplasia (HNED; OMIM 602032) constitutes a rare subgroup of ectodermal dysplasias characterised by onychodystrophy, hypotrichosis and brittle hair. We identified a large consanguineous Pakistani family with four siblings affected by a congenital autosomal recessive form of the disease. Based on previous genetic findings in HNED we performed linkage analysis in the family using chromosome 12 markers. A genetic linkage analysis revealed a lod score of 2.92 ( = 0.0) at locus D12S368, indicating the disease gene to be located on chromosome 12. Candidate genes on chromosome 12, including the KRTHB5 gene and four additional keratin II genes, were sequenced in affected family members. Sequence analysis of the coding regions of keratin KRTHB5 gene, previously associated with a distinct clinical form of hair-nail dysplasia, revealed normal coding regions. Our study confirms linkage of a variant clinical form of hair-nail ectodermal dysplasia to chromosome 12 without any mutation in the coding sequences of the KRTHB5 gene. The results suggest this family to have either a non-coding mutation in the KRTHB5 gene, or a mutation in a yet unknown gene within the linked region on chromosome 12.

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.

Wnt signalling is one of a few pathways that are crucial for controlling genetic programs during embryonic development as well as in adult tissues. WNT10A is expressed in the skin and epidermis and it has shown to be critical for the development of ectodermal appendages. A nonsense mutation in WNT10A was recently identified in odonto-onycho-dermal dysplasia (OODD; MIM 257980), a rare syndrome characterised by severe hypodontia, nail dystrophy, smooth tongue, dry skin, keratoderma and hyperhydrosis of palms and soles. We identified a large consanguineous Pakistani pedigree comprising six individuals affected by a complete OODD syndrome. Autozygosity mapping using SNP array analysis showed that the affected individuals are homozygous for the WNT10A gene region. Subsequent mutation screening showed a homozygous c.392C>T transition in exon 3 of WNT10A, which predicts a p.A131V substitution in a conserved alpha-helix domain. We report here on the first inherited missense mutation in WNT10A with associated ectodermal features.