Mutations of MYO6 are associated with recessive deafness, DFNB37.
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.
Ahmed
Zubair M
ZM
Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.
Morell
Robert J
RJ
Riazuddin
Saima
S
Gropman
Andrea
A
Shaukat
Shahzad
S
Ahmad
Mussaber M
MM
Mohiddin
Saidi A
SA
Fananapazir
Lameh
L
Caruso
Rafael C
RC
Husnain
Tayyab
T
Khan
Shaheen N
SN
Riazuddin
Sheikh
S
Griffith
Andrew J
AJ
Friedman
Thomas B
TB
Wilcox
Edward R
ER
D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000151:congenital / Q000235:genetics*; D005190:Family; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype
C089785:myosin VI; D018995:Myosin Heavy Chains