Guo Hui,Liu Fuhua,Ou Minglin,Lin Linhua,Ren Jinghui,Zeng Jun,Li Qiyun,Lin Xiuhua,Liang Zhuojian,Dai Yong.Disease-causing gene in a family with mental retardation[J].J Amry Med Univ (J Third Mil Med Univ),2016,38(08):889-892.
Guo Hui,Liu Fuhua,Ou Minglin,Lin Linhua,Ren Jinghui,Zeng Jun,Li Qiyun,Lin Xiuhua,Liang Zhuojian,Dai Yong.Disease-causing gene in a family with mental retardation[J].J Amry Med Univ (J Third Mil Med Univ),2016,38(08):889-892.DOI：
Objective To explore the candidate disease-causing gene in a mental retardation family. Methods The proband’s chromosome karyotype was analyzed
and whole-exome sequencing was performed to screen the candidate gene. Sanger sequencing was used to check the result of whole-exome sequencing and investigate the genotypes in the patient’s family. Results The proband’s karyotype was normal (46
XY) in G-banding level. Using whole-exome sequencing method
1 455 single nucleotide polymorphisms and 187 indels were identified in the proband. Combined with the family information and the result of Sanger sequencing
ARHGAP4 gene with C2822T mutation in X chromosome was screened from the data and identified as disease-causing gene in the family. Conclusion C2822T mutation in ARHGAP4 gene on X chromosome may be related with the phenotype of mental retardation in this family.
京公网安备11010802024621