A preliminary association study in Turkish population: Do IL-17 and UCP2 gene variants contributes to the ethiology of microtia?

Abstract

Counselling sessions with her family revealed that there were atleast four of her relatives suffering from the same symptoms. We draw a pedigree displaying three generations and consanguinity of the family and carried out a WES analysis to selected. Results revealed that, three severely affected family members had 1-bp insertion in the WNK1 gene and homozygous for the allele. This WNK1 gene was one of the candidate genes for HSAN type 2.