RESUMEN
Due to the majority of currently available genome data deriving from individuals of European ancestry, the clinical interpretation of genomic variants in individuals from diverse ethnic backgrounds remains a major diagnostic challenge. Here, we investigated the genetic cause of a complex neurodevelopmental phenotype in two Palestinian siblings. Whole exome sequencing identified a homozygous missense TECPR2 variant (Chr14(GRCh38):g.102425085G>A; NM_014844.5:c.745G>A, p.(Gly249Arg)) absent in gnomAD, segregating appropriately with the inheritance pattern in the family. Variant assessment with in silico pathogenicity prediction and protein modeling tools alongside population database frequencies led to classification as a variant of uncertain significance. As pathogenic TECPR2 variants are associated with hereditary sensory and autonomic neuropathy with intellectual disability, we reviewed previously published candidate TECPR2 missense variants to clarify clinical outcomes and variant classification using current approved guidelines, classifying a number of published variants as of uncertain significance. This work highlights genomic healthcare inequalities and the challenges in interpreting rare genetic variants in populations underrepresented in genomic databases. It also improves understanding of the clinical and genetic spectrum of TECPR2-related neuropathy and contributes to addressing genomic data disparity and inequalities of the genomic architecture in Palestinian populations.
Asunto(s)
Árabes , Secuenciación del Exoma , Neuropatías Hereditarias Sensoriales y Autónomas , Linaje , Hermanos , Preescolar , Femenino , Humanos , Masculino , Árabes/genética , Predisposición Genética a la Enfermedad , Neuropatías Hereditarias Sensoriales y Autónomas/diagnóstico , Neuropatías Hereditarias Sensoriales y Autónomas/genética , Neuropatías Hereditarias Sensoriales y Autónomas/patología , Homocigoto , Medio Oriente , Mutación Missense/genética , FenotipoRESUMEN
Background: Deodorants are widely used to mask unpleasant body odors. They are reported to cause some adverse effects depending on the form and ingredients. The purpose of this study was to assess the prevalence of deodorant use and related adverse effects among Palestinian students. Methods: This cross-sectional study was carried out at An-Najah National University from Aug 2018 to Mar 2020. A questionnaire was constructed using a Google survey form. All analyses were done using SPSS 21.0, Fisher test was used for comparative analysis and the P-value < 0.05 was considered as statistically significant. Results: A total of 554 students participated in the study. About 93% of the participants were using deodorants and adverse effects were reported by 25% of the participants. The reported adverse effects were itching (26%), coloration (25%), sneezing (21%), and eye redness (8%). Only 4.1% of the participants visited a physician for counselling regarding various adverse effects. Conclusion: Deodorants were widely used by Palestinian students with reported adverse effects, but these side effects rarely prompted the participants to seek medical advice.