Screening of the DFNB3 Locus: Identification of Three Novel Mutations of MYO15A Associated with Hearing Loss and Further Suggestion for Two Distinctive Genes on This Locus

被引：35

作者：

Belguith, Hanen ^{[1
]}

Aifa-Hmani, Mounira ^{[1
]}

Dhouib, Houria ^{[2
]}

Ben Said, Mariem ^{[1
]}

Mosrati, Mohamed Ali ^{[1
]}

Lahmar, Imed ^{[3
]}

Moalla, Jihen ^{[2
]}

Charfeddine, Ilhem ^{[2
]}

Driss, Nabil ^{[3
]}

Ben Arab, Saida ^{[4
]}

Ghorbel, Abdelmonem ^{[2
]}

Ayadi, Hammadi ^{[1
]}

Masmoudi, Saber ^{[1
]}

机构：

[1] Ctr Biotechnol Sfax, Unite Cibles Diagnost & Therapie, Sfax 3038, Tunisia

[2] CHUH Bourguiba Sfax, Serv ORL, Sfax, Tunisia

[3] CHU Mahdia Sfax, Serv ORL, Sfax, Tunisia

[4] Fac Med, Unite Epidemiol Genet & Mol, Tunis, Tunisia

来源：

GENETIC TESTING AND MOLECULAR BIOMARKERS | 2009年 / 13卷 / 01期

关键词：

UNCONVENTIONAL MYOSIN; DEAFNESS DFNB3; XVA; FAMILIES; MOTOR; TMC1;

D O I：

10.1089/gtmb.2008.0077

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Recessive mutations of MYO15A are associated with nonsyndromic hearing loss (HL) in humans (DFNB3) and in the shaker-2 mouse. Human MYO15A has 66 exons and encodes unconventional myosin XVA. Analysis of 77 Tunisian consanguineous families segregating recessive deafness revealed evidence of linkage to microsatellite markers for DFNB3 in four families. In two families, sequencing of MYO15A led to the identification of two novel homozygous mutations: a nonsense (c.4998C>A (p.C1666X) in exon 17 and a splice site mutation in intron 54 (c.9229 + 1G>A). A novel mutation of unknown significance, c.7395+3G>C, was identified in the third family, and no mutation was found in the fourth family. In conclusion, we discovered three novel mutations of MYO15A, and our data suggest the possibility that there are two distinct genes at the DFNB3 locus.

引用

页码：147 / 151

页数：5

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