Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss

被引：93

作者：

Migliosi, V

Modamio-Hoybjor, S

Moreno-Pelayo, MA

Rodríguez-Ballesteros, M

Villamar, M

Tellería, D

Menéndez, I

Moreno, F

del Castillo, I

机构：

[1] Hosp Ramon & Cajal, Unidad Genet Mol, E-28034 Madrid, Spain

[2] Hosp Pediat William Soler, Dept Genet, Havana, Cuba

来源：

JOURNAL OF MEDICAL GENETICS | 2002年 / 39卷 / 07期

关键词：

D O I：

10.1136/jmg.39.7.502

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：502 / 506

页数：5

共 27 条

[1] Prevalent connexin 26 gene (GJB2) mutations in Japanese [J].

Abe, S ;

Usami, S ;

Shinkawa, H ;

Kelley, PM ;

Kimberling, WJ .

JOURNAL OF MEDICAL GENETICS, 2000, 37 (01) :41-43

[2] Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus [J].

Adato, A ;

Raskin, L ;

Petit, C ;

Bonne-Tamir, B .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (06) :437-442

[3] Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23 [J].

Bork, JM ;

Peters, LM ;

Riazuddin, S ;

Bernstein, SL ;

Ahmed, ZM ;

Ness, SL ;

Polomeno, R ;

Ramesh, A ;

Schloss, M ;

Srisailpathy, CRS ;

Wayne, S ;

Bellman, S ;

Desmukh, D ;

Ahmed, Z ;

Khan, SN ;

Kaloustian, VMD ;

Li, XC ;

Lalwani, A ;

Riazuddin, S ;

Bitner-Glindzicz, M ;

Nance, WE ;

Liu, XZ ;

Wistow, G ;

Smith, RJH ;

Griffith, AJ ;

Wilcox, ER ;

Friedman, TB ;

Morell, RJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (01) :26-37

[4]

Cohen MM, 1995, HEREDITARY HEARING L, V28, P9

[5] Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect:: implications for genetic counselling [J].

Denoyelle, F ;

Marlin, S ;

Weil, D ;

Moatti, L ;

Chauvin, P ;

Garabédian, EN ;

Petit, C .

LANCET, 1999, 353 (9161) :1298-1303

[6] A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].

Dib, C ;

Faure, S ;

Fizames, C ;

Samson, D ;

Drouot, N ;

Vignal, A ;

Millasseau, P ;

Marc, S ;

Hazan, J ;

Seboun, E ;

Lathrop, M ;

Gyapay, G ;

Morissette, J ;

Weissenbach, J .

NATURE, 1996, 380 (6570) :152-154

[7] A GENE FOR CONGENITAL, RECESSIVE DEAFNESS DFNB3 MAPS TO THE PERICENTROMERIC REGION OF CHROMOSOME-17 [J].

FRIEDMAN, TB ;

LIANG, Y ;

WEBER, JL ;

HINNANT, JT ;

BARBER, TD ;

WINATA, S ;

ARHYA, IN ;

ASHER, JH .

NATURE GENETICS, 1995, 9 (01) :86-91

[8]

Gabriel H, 2001, Hum Mutat, V17, P521, DOI 10.1002/humu.1138

[9] Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss [J].

Houseman, MJ ;

Ellis, LA ;

Pagnamenta, A ;

Di, WL ;

Rickard, S ;

Osborn, AH ;

Dahl, HHM ;

Taylor, GR ;

Bitner-Glindzicz, M ;

Reardon, W ;

Mueller, RF ;

Kelsell, DP .

JOURNAL OF MEDICAL GENETICS, 2001, 38 (01) :20-25

[10]

KEEN J, 1991, TRENDS GENET, V7, P5

← 1 2 3 →