Ontology highlight
ABSTRACT:
SUBMITTER: Ahmed ZM
PROVIDER: S-EPMC1180285 | biostudies-literature | 2003 May
REPOSITORIES: biostudies-literature
American journal of human genetics 20030408 5
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 ...[more]