Identification of a microdeletion at the 7q33‐q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case

American Journal of Medical Genetics, Part A - Tập 152A Số 12 - Trang 3164-3172 - 2010
Aline Petrin1, Célia Maria Giacheti2, Luciana Paula Maximino3, Dagma Venturini Marques Abramides3, Sthella Zanchetta4, Natalia Freitas Rossi2, Antônio Richieri‐Costa5, Jeffrey C. Murray6
1Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242 USA
2Departamento de Fonoaudiologia UNESP, Marília, SP, Brazil
3Departamento de Fonoaudiologia, FOB‐USP, Bauru, SP, Brazil
4Departamento de Oftalmologia, Otorrinolaringologia e Cirurgia de Cabeça e Pescoço, FMRP‐USP, Brazil
5Hospital de Reabilitação de Anomalias Craniofaciais, USP, Bauru, SP, Brazil
6Department of Pediatrics, University of Iowa, Iowa City, Iowa

Tóm tắt

AbstractSpeech and language disorders are some of the most common referral reasons to child development centers accounting for approximately 40% of cases. Stuttering is a disorder in which involuntary repetition, prolongation, or cessation of the sound precludes the flow of speech. About 5% of individuals in the general population have a stuttering problem, and about 80% of the affected children recover naturally. The causal factors of stuttering remain uncertain in most cases; studies suggest that genetic factors are responsible for 70% of the variance in liability for stuttering, whereas the remaining 30% is due to environmental effects supporting a complex cause of the disorder. The use of high‐resolution genome wide array comparative genomic hybridization has proven to be a powerful strategy to narrow down candidate regions for complex disorders. We report on a case with a complex set of speech and language difficulties including stuttering who presented with a 10 Mb deletion of chromosome region 7q33‐35 causing the deletion of several genes and the disruption of CNTNAP2 by deleting the first three exons of the gene. CNTNAP2 is known to be involved in the cause of language and speech disorders and autism spectrum disorder and is in the same pathway as FOXP2, another important language gene, which makes it a candidate gene for causal studies speech and language disorders such as stuttering. © 2010 Wiley‐Liss, Inc.

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Thông tin xuất bản

American Journal of Medical Genetics, Part A

Tập 152A Số 12

3164-3172

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