title: CNTNAP2 Is Significantly Associated With Speech Sound Disorder in the Chinese Han Population.
abstract: Speech sound disorder is the most common communication disorder. Some investigations support the possibility that the CNTNAP2 gene might be involved in the pathogenesis of speech-related diseases. To investigate single-nucleotide polymorphisms in the CNTNAP2 gene, 300 unrelated speech sound disorder patients and 200 normal controls were included in the study. Five single-nucleotide polymorphisms were amplified and directly sequenced. Significant differences were found in the genotype (P = .0003) and allele (P = .0056) frequencies of rs2538976 between patients and controls. The excess frequency of the A allele in the patient group remained significant after Bonferroni correction (P = .0280). A significant haplotype association with rs2710102T/+rs17236239A/+2538976A/+2710117A (P = 4.10e-006) was identified. A neighboring single-nucleotide polymorphism, rs10608123, was found in complete linkage disequilibrium with rs2538976, and the genotypes exactly corresponded to each other. The authors propose that these CNTNAP2 variants increase the susceptibility to speech sound disorder. The single-nucleotide polymorphisms rs10608123 and rs2538976 may merge into one single-nucleotide polymorphism.
authors.affiliation: Department of Developmental Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China cmuzyj@163.com.
authors.forename: Yun-Jing
authors.initials: YJ
authors.lastname: Zhao
authors.affiliation: Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, China.
authors.forename: Yue-Ping
authors.initials: YP
authors.lastname: Wang
authors.affiliation: Department of Developmental Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
authors.forename: Wen-Zhu
authors.initials: WZ
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Central Hospital Affiliated to Shenyang Medical College, Shenyang, China.
authors.forename: Hong-Wei
authors.initials: HW
authors.lastname: Sun
authors.affiliation: Department of Developmental Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
authors.forename: Hong-Wei
authors.initials: HW
authors.lastname: Ma
authors.affiliation: Department of Developmental Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
authors.forename: Ya-Ru
authors.initials: YR
authors.lastname: Zhao
mesh_terms: D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D066229:Speech Sound Disorder / Q000235:genetics*
chemical_list: C403049:CNTNAP2 protein, human; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins
keywords: CNTNAP2 gene; DNA sequencing; articulation disorder; haplotype analysis; single-nucleotide polymorphism