Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients

Waardenburg syndrome (WS) is an auditory-pigmentary disease characterized by a clinical and genetic variability. WS is classified into four types depending on the presence or absence of additional symptoms: WS1, WS2, WS3 and WS4. Type 1 and 3 are mostly caused by PAX3 mutations, while type 2 and type 4 are genetically heterogeneous.The aims of this study are to confirm the diagnostic of WS1 by the sequencing of PAX3 gene and to evaluate the genotype phenotype correlation.A clinical classification was established for 14 patients WS, as proposed by the Waardenburg Consortium, and noted a predominance of type 1 and type 2 with 6 patients WS1, 7 patients WS2 and 1 patient WS3.

Source: International Journal of Pediatric Otorhinolaryngology - September 28, 2017 Category: ENT & OMF Authors: Mediha Trabelsi, Malek Nouira, Faouzi Maazoul, Lilia Kraoua, Rim Meddeb, Ines Ouertani, Imen Chelly, Val érie Benoit, Ghazi Besbes, Ridha Mrad Source Type: research