Journal
JOURNAL OF MEDICAL GENETICS
Volume 41, Issue 8, Pages 591-595Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/jmg.2004.018523
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Funding
- NIDCD NIH HHS [Z01 DC000039-07, Z01 DC000064-03, Z01 DC000035-07] Funding Source: Medline
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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 protein for hearing and vestibular function in humans. The abnormal vestibular phenotype associated with ESPN mutations will be a useful clinical marker for refining the differential diagnosis of nonsyndromic deafness.
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