Rikkert L. Snoeckx

TL;DR: The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.

TL;DR: This study is the first large systematic analysis indicating that the GJB2 genotype has a major impact on the degree of hearing impairment, and identifying mild genotypes.

TL;DR: COL9A1 is the fourth identified gene that can cause Stickler syndrome with an autosomal recessive inheritance pattern, and this finding will have a major impact on the genetic counseling of patients with Stickler Syndrome and on the understanding of the pathophysiology of collagens.

TL;DR: The analysis of the GJB2 gene in 159 Egyptians from 111 families with non‐syndromic mild to profound hearing impairment revealed three other novel gene variants resulting in amino acid substitutions, including a dominant mutation at a highly conserved residue found in the family with Vohwinkel syndrome.

TL;DR: Haplotype analysis indicated that the genetic defect in this family does not overlap the DFNA13 and DFNA21 regions that are also located on 6p, and identification of the disease gene will be of major importance in understanding the pathophysiology of hearing impairment.