Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.

Postaxial polydactyly (PAP) is a frequent limb malformation consisting in the duplication of the fifth digit of the hand or foot. Morphologically, this condition is divided into type A and B, with PAP-B corresponding to a more rudimentary extra-digit. Recently, biallelic truncating variants in the transcription factor GLI1 were reported to be associated with a recessive disorder, which in addition to PAP-A, may include syndromic features. Moreover, two heterozygous subjects carrying only one inactive copy of GLI1 were also identified with PAP. Herein, we aimed to determine the level of involvement of GLI1 in isolated PAP, a condition previously established to be autosomal dominantly inherited with incomplete penetrance. We analyzed the coding region of GLI1 in 95 independent probands with nonsyndromic PAP and found 11.57% of these subjects with single heterozygous pathogenic variants in this gene. The detected variants lead to premature termination codons or result in amino acid changes in the DNA-binding domain of GLI1 that diminish its transactivation activity. Family segregation analysis of these variants was consistent with dominant inheritance with incomplete penetrance. We conclude that heterozygous changes in GLI1 underlie a significant proportion of sporadic or familial cases of isolated PAP-A/B.

The predictive effect of neutrophil-lymphocyte and platelet-lymphocyte ratios in the post-operative recurrence of temporomandibular joint ankylosis.

BACKGROUND: Reankylosis is a frequent pathology in patients who are operated for post-traumatic temporomandibular joint (TMJ) ankylosis. In the current practice, ankylosing spondylitis attacks are monitored with the increases in neutrophil-lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR). In this study, such a relation between TMJ reankylosis and increase in these ratios was evaluated. METHODS: Patients who were operated between January 2010 and December 2019 for unilateral or bilateral TMJ ankylosis were included in this study. Temporomandibular gap arthroplasty with an interpositional silicone block was performed for each patient by the same operative team. Each patient had standard physiotherapy. All ages and genders were included in the study. Due to the complete blood count differences between children and adults, 18 years of age was used as a cutoff between the groups. A need for reoperation was accepted as reankylosis. The NLR and PLR of children without and with reankylosis and adults without and with reankylosis were compared. RESULTS: Twenty-nine children and 38 adults were included in the study. Mean age of the children and adults were 10.8 and 37.3 years, respectively. Eleven children and eight adults had reankylosis. In patients with reankylosis, NLR and PLR were high significantly, regardless of age. In children, PLR was significantly higher in reankylosis patients. In adults, NLR was significantly higher in reankylosis patients. CONCLUSION: PLR and NLR may be utilized for predicting reankylosis, respectively, in children and adults who were operated for ankylosis due to TMJ fractures.