title: Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis.
abstract: MESP2, HES7 and DUSP6 genes have been proved to be involved in the etiopathogenesis of congenital scoliosis (CS) in animal embryo studies, however, whether this association was detected in human CS patients also remains unknown. One hundred sporadic and non-syndromic CS patients and 100 age-matched normal controls were included in this study. Mutation screening of gene exons were performed by DNA sequencing. However, no mutation or new single nucleotide polymorphism was found in the exons of MESP2, HES7 and DUSP6 genes in CS patients and normal controls. MESP2, HES7 and DUSP6 genes may not be involved in the etiopathogenesis of sporadic and non-syndromic CS in Chinese Han population.
authors: Spine Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China.
authors: Xu-sheng
authors: XS
authors: Qiu
authors: Song
authors: S
authors: Zhou
authors: Hua
authors: H
authors: Jiang
authors: Ming-liang
authors: ML
authors: Ji
authors: Qi
authors: Q
authors: Ding
authors: Feng
authors: F
authors: Lv
authors: Zhen
authors: Z
authors: Liu
authors: Nelson
authors: N
authors: Tang
authors: Jack C Y
authors: JC
authors: Cheng
authors: Yong
authors: Y
authors: Qiu
mesh_terms: D000293:Adolescent; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D002681:China / Q000453:epidemiology; D054642:Dual Specificity Phosphatase 6 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D018570:Risk Assessment; D012307:Risk Factors; D012600:Scoliosis / Q000151:congenital* / Q000453:epidemiology*
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D054642:Dual Specificity Phosphatase 6; C486601:HES7 protein, human; C572576:MESP2 protein, human; C517035:DUSP6 protein, human