Ontology highlight
ABSTRACT:
SUBMITTER: Xia H
PROVIDER: S-EPMC6428124 | biostudies-literature | 2019 Jan-Mar
REPOSITORIES: biostudies-literature
Genetics and molecular biology 20190101 1
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous neurosensory disorder, usually characterized by congenital or prelingual hearing loss. We report a Han Chinese male, born to consanguineous parents, presenting with nonsyndromic sensorineural hearing loss, whose clinical phenotype was also consistent with auditory neuropathy spectrum disorder (ANSD). After exome sequencing, a gap junction protein beta 2 gene (GJB2) c.235delC variant in the homozygous state was ...[more]