Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

doi:10.1038/ejhg.2013.108

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Article

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

European journal of human genetics : EJHG - 1 Feb 2014

Rost Simone, Bach Elisa, Neuner Cordula, Nanda Indrajit, Dysek Sandra, Bittner Reginald E, Keller Alexander, Bartsch Oliver, Mlynski Robert, Haaf Thomas, Müller Clemens R, Kunstmann Erdmute

Abstract excerpt

Hereditary hearing loss is the most common human sensorineural disorder. Genetic causes are highly heterogeneous, with mutations detected in >40 genes associated with nonsyndromic hearing loss, to date. Whereas autosomal recessive and autosomal dominant inheritance is prevalent, X-linked forms of nonsyndromic hearing impairment are extremely rare. Here, we present a Hungarian three-generation family with X-linked...

Topics

Amino Acid Sequence
Animals
Cells, Cultured
Child, Preschool
Cochlea
Collagen Type IV
DNA Mutational Analysis
Deafness
Female
Gene Expression

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Association Studies

Genetic Diseases, X-Linked

Genetic Predisposition to Disease

Humans

Male

Mice, Inbred C57BL

Middle Aged

Molecular Sequence Data

Source

Open in PubMed Open full text

Identifiers

PMID: 23714752
DOI: 10.1038/ejhg.2013.108
PMCID: PMC3895628

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