MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

被引：179

作者：

Melchionda, S

Ahituv, N

Bisceglia, L

Sobe, T

Glaser, F

Rabionet, R

Arbones, ML

Notarangelo, A

Di Iorio, E

Carella, M

Zelante, L

Estivill, X

Avraham, KB

Gasparini, P ^{[1
]}

机构：

[1] IRCCS Hosp CSS, Med Genet Serv, I-71013 San Giovanni Rotondo, Italy

[2] Tel Aviv Univ, Sackler Sch Med, Dept Human Genet & Mol Med, IL-69978 Tel Aviv, Israel

[3] Tel Aviv Univ, George S Wise Fac Life Sci, Dept Biochem, IL-69978 Tel Aviv, Israel

[4] Hosp Duren & Reynals, Inst Recerca Oncol, Med & Mol Genet Ctr, Barcelona, Spain

[5] Tigem, Naples, Italy

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 03期

关键词：

D O I：

10.1086/323156

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutations in the unconventional myosin VI gene, Myo6, are associated with deafness and vestibular dysfunction in the Snell's waltzer (sv) mouse. The corresponding human gene, MYO6, is located on chromosome 6q13. We describe the mapping of a new deafness locus, DFNA22, on chromosome 6q13 in a family affected by a nonsyndromic dominant form of deafness (NSAD), and the subsequent identification of a missense mutation in the MYO6 gene in all members of the family with hearing loss.

引用

页码：635 / 640

页数：6