Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2013
[Analysis of DCX gene mutation in a patient featuring X-linked subcortical laminar heterotopia and epilepsy].
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Li Wen, Zhang Mei-pin, Hou Zhong-jun, Zeng Tao, Tang Bin, Liu Xiao-rong
Аннотация
OBJECTIVE: To detect potential mutation of Doublecortin (DCX) gene in a patient featuring X-linked subcortical laminar heterotopia (X-SCLH) and epilepsy.
METHODS: Mutation of the DCX gene was screened by PCR and direct sequencing. Pathogenicity of the mutation was analyzed with a PolyPhen-2 software.
RESULTS: A de novo missense mutation c.971T>C (p.Phe324Ser) was discovered.
CONCLUSION: A diagnostic method for X-SCLH has been established, which may facilitate diagnosis and genetic counseling of patients featuring this disease.
METHODS: Mutation of the DCX gene was screened by PCR and direct sequencing. Pathogenicity of the mutation was analyzed with a PolyPhen-2 software.
RESULTS: A de novo missense mutation c.971T>C (p.Phe324Ser) was discovered.
CONCLUSION: A diagnostic method for X-SCLH has been established, which may facilitate diagnosis and genetic counseling of patients featuring this disease.