DFNB1 owes its name to the first mapped locus for nonsyndromic deafness (DFN) with autosomal recessive inheritance (B; Guilford et al., 1994), and the acronym has eventually come to …

2022年4月6日 · What is DFNB1? DFNB1 is an inherited condition characterized by mild to profound hearing loss that is typically present from birth. In most cases, a person must have …

DFNB1 nonsyndromic hearing loss and deafness is an inherited condition in which an individual has mild to severe hearing loss, usually, from birth. It is caused by mutations in GJB2 (which …

The most common cause of mild to moderate genetic hearing loss and may be as common as DFNB1 in some populations. Degree of hearing loss may vary among siblings. Hearing loss is …

About half of all severe-to-profound autosomal recessive nonsyndromic hearing loss results from mutations in the GJB2 gene; these cases are designated DFNB1. The GJB2 gene provides …

We developed and used a survey to assess symptoms of vestibular dysfunction, medical, and family history was distributed to Cases with deafness due to pathogenic GJB2 and/or GJB6 …

Nonsyndromic autosomal recessive deafness (DFNB1) has been reported previously. 10,23-25 It is characterized by a prelingual onset. The severity of the deafness varies from mild to …

2017年12月22日 · We finally discuss the diversity of clinical features of DFNB1 HI as regards severity, age of onset, inner ear malformations and vestibular dysfunction, highlighting the …

Autosomal recessive nonsyndromic hearing loss or deafness DFNB1 is due to homozygous or compound heterozygous pathogenic variants in the GJB2 gene, and accounts for up to 50% of …

1999年4月17日 · Background: DFNB1, the locus of an autosomal recessive form of deafness due to mutations in the connexin-26 gene (CX26 or GJB2) is one of the most frequent hereditary …