[Analysis of SATB2 gene mutation in a child with Glass syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics(2019)
摘要
OBJECTIVE:To analyze the clinical characteristics and genetic basis of a child affected with Glass syndrome.
METHODS:Clinical manifestations and auxiliary examination results of the child were analyzed. Potential mutation was detected with next generation sequencing and validated by Sanger sequencing.
RESULTS:The child has featured growth and mental retardation, delayed speech, cleft palate, crowding of teeth, and downslanting palpebral fissures. DNA sequencing revealed a de novo heterozygous missense mutation c.1166G>A (p.R389H) in exon 8 of the SATB2 gene in the child.
CONCLUSION:The heterozygous mutation c.1166G>A (p.R389H) of the SATB2 gene probably account for the Glass syndrome in the patient.
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关键词
SATB2 gene,Glass syndrome,Genetic mutation
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