By using homozygosity mapping in a consanguineous Pakistani family, we detected linkage
of nonsyndromic hearing loss to a 7.6 Mb region on chromosome 3q13. 31-q21. 1 within the …

The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal
dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3 …

A gene causing autosomal-recessive, nonsyndromic hearing loss, DFNB39, was previously
mapped to an 18 Mb interval on chromosome 7q11. 22-q21. 12. We mapped an additional …

The human and mouse genomes contain 21 and 20 connexin genes, respectively. During
the last 10-year period, genetic research on connexins has been stimulated by two parallel …

Hearing loss is the most prevalent sensory perception deficit in humans, affecting 1/500
newborns, can be syndromic or nonsyndromic and is genetically heterogeneous. Nearly …

In the present study, genotype–phenotype correlations in eight Dutch DFNB8/10 families
with compound heterozygous mutations in TMPRSS3 were addressed. We compared the …

Although deafness can be acquired throughout an animal's life from a variety of causes,
hereditary deafness, especially congenital hereditary deafness, is a significant problem in …

Abstract Adeno-associated virus (AAV)-mediated gene therapy has evolved from the bench
to the bedside, and is now considered the therapy of choice for certain inherited diseases …

Hereditary deafness affects approximately 1 in 2,000 children. Mutations in the gene
encoding the cochlear gap junction protein connexin 26 (CX26) cause prelingual …

Objective: Hereditary nonsyndromic deafness is an autosomal recessive condition in about
80% of cases, and point mutations in the GJB2 gene (connexin 26) and two deletions in the …