Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.
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ABSTRACT:
SUBMITTER: Naz S
PROVIDER: S-EPMC1735855 | biostudies-other | 2004 Aug
REPOSITORIES: biostudies-other
Publications
Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.
Naz S S Griffith A J AJ Riazuddin S S Hampton L L LL Battey J F JF Khan S N SN Riazuddin S S Wilcox E R ER Friedman T B TB
Journal of medical genetics 20040801 8
We mapped a human deafness locus DFNB36 to chromosome 1p36.3 in two consanguineous families segregating recessively inherited deafness and vestibular areflexia. This phenotype co-segregates with either of two frameshift mutations, 1988delAGAG and 2469delGTCA, in ESPN, which encodes a calcium-insensitive actin-bundling protein called espin. A recessive mutation of ESPN is known to cause hearing loss and vestibular dysfunction in the jerker mouse. Our results establish espin as an essential protei ...[more]
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