A genetic linkage study in Brazil identifies a new locus for persistent developmental stuttering on chromosome 10

被引：9

作者：

Domingues, C. E. F. ^{[1
,2
]}

Olivera, C. M. C. ^{[3
]}

Oliveira, B. V. ^{[2
]}

Juste, F. S. ^{[4
]}

Andrade, C. R. F. ^{[4
]}

Giacheti, C. M. ^{[3
]}

Moretti-Ferreira, D. ^{[2
]}

Drayna, D. ^{[1
]}

机构：

[1] NIDCD, NIH, Rockville, MD 20850 USA

[2] Univ Estadual Paulista, Inst Biociencias Botucatu, Dept Genet, Botucatu, SP, Brazil

[3] Univ Estadual Paulista, Dept Fonoaudiol, Ctr Estudos Educ & Saude, Marilia, SP, Brazil

[4] Univ Sao Paulo, Dept Fonoaudiol Fisioterapia & Terapia Ocupac, Fac Med, Sao Paulo, SP, Brazil

来源：

GENETICS AND MOLECULAR RESEARCH | 2014年 / 13卷 / 01期

基金：

美国国家卫生研究院;

关键词：

Stuttering; Linkage; Dominant; Chromosome; 10q; TWIN; ETIOLOGY; SAMPLE;

D O I：

10.4238/2014.March.24.13

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：

Although twin, adoption, and family studies demonstrate that genetic factors are involved in the origins of stuttering, the mode of transmission of the disorder in families is not well defined and stuttering is considered a genetically complex trait. We performed a genome-wide linkage scan in a group of 43 Brazilian families, each containing multiple cases of persistent developmental stuttering. Linkage analysis under a dominant model of inheritance generated significant evidence of linkage in two Brazilian families, with a combined maximum single-point LOD score of 4.02 and a multipoint LOD score of 4.28 on chromosome 10q21. This demonstrated the presence of a novel variant gene at this locus that predisposes individuals to stuttering, which provides an opportunity to identify novel genetic mechanisms that underlie this disorder.

引用

页码：2094 / 2101

页数：8

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