title: Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
abstract: Mutations in myosin XVA are responsible for the shaker 2 ( sh2) phenotype in mice and nonsyndromic autosomal recessive profound hearing loss DFNB3 on chromosome 17p11.2. We have ascertained seven families with profound congenital hearing loss from Pakistan and India with evidence of linkage to DFNB3 at 17p11.2. We report three novel homozygous mutations in MYO15A segregating in three of these families. In addition, one hemizygous missense mutation of MYO15A was found in one of eight Smith-Magenis syndrome (del(17)p11.2) patients from North America who had moderately severe sensorineural hearing loss.
authors.affiliation: Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Room 2A-015, Rockville, MD 20850, USA.
authors.forename: N
authors.initials: N
authors.lastname: Liburd
authors.forename: M
authors.initials: M
authors.lastname: Ghosh
authors.forename: S
authors.initials: S
authors.lastname: Riazuddin
authors.forename: S
authors.initials: S
authors.lastname: Naz
authors.forename: S
authors.initials: S
authors.lastname: Khan
authors.forename: Z
authors.initials: Z
authors.lastname: Ahmed
authors.forename: S
authors.initials: S
authors.lastname: Riazuddin
authors.forename: Y
authors.initials: Y
authors.lastname: Liang
authors.forename: P S
authors.initials: PS
authors.lastname: Menon
authors.forename: T
authors.initials: T
authors.lastname: Smith
authors.forename: A C
authors.initials: AC
authors.lastname: Smith
authors.forename: K S
authors.initials: KS
authors.lastname: Chen
authors.forename: J R
authors.initials: JR
authors.lastname: Lupski
authors.forename: E R
authors.initials: ER
authors.lastname: Wilcox
authors.forename: L
authors.initials: L
authors.lastname: Potocki
authors.forename: T B
authors.initials: TB
authors.lastname: Friedman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000818:Animals; D001483:Base Sequence; D002886:Chromosomes, Human, Pair 17; D003241:Consanguinity; D017931:DNA Primers; D003638:Deafness / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006720:Homozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D051379:Mice; D020125:Mutation, Missense; D009218:Myosins / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
chemical_list: D017931:DNA Primers; C485245:MYO15A protein, human; C114013:Myo15 protein, mouse; D009218:Myosins