期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 72, 期 5, 页码 1315-1322出版社
CELL PRESS
DOI: 10.1086/375122
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资金
- Intramural NIH HHS [Z01 DC000039, Z01 DC000064] Funding Source: Medline
- NIDCD NIH HHS [ZO1 DC00035-06, ZO1 DC000039-06, ZO1 DC000064-02, T32 DC000035] Funding Source: Medline
Cosegregation of profound, congenital deafness with markers on chromosome 6q13 in three Pakistani families defines a new recessive deafness locus, DFNB37. Haplotype analyses reveal a 6-cM linkage region, flanked by markers D6S1282 and D6S1031, that includes the gene encoding unconventional myosin VI. In families with recessively inherited deafness, DFNB37, our sequence analyses of MYO6 reveal a frameshift mutation (36-37insT), a nonsense mutation (R1166X), and a missense mutation (E216V). These mutations, along with a previously published missense allele linked to autosomal dominant progressive hearing loss (DFNA22), provide an allelic spectrum that probes the relationship between myosin VI dysfunction and the resulting phenotype.
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