Clinical Genetics
Analysis of SATB2 gene mutation in a child with Glass syndrome
Lin Meili, Yao Ruen, Lu Jing, Chen Wei, Xu Yufei, Li Guoqiang, Yu Tingting, Qing Yanrong, Jin Xingming, Wang Jian
Published 2019-07-10
Cite as Chin J Med Genet, 2019, 36(7): 712-715. DOI: 10.3760/cma.j.issn.1003-9406.2019.07.014
Abstract
ObjectiveTo analyze the clinical characteristics and genetic basis of a child affected with Glass syndrome.
MethodsClinical manifestations and auxiliary examination results of the child were analyzed. Potential mutation was detected with next generation sequencing and validated by Sanger sequencing.
ResultsThe 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 theSATB2 gene in the child.
ConclusionThe heterozygous mutation c. 1166G>A (p.R389H) of theSATB2 gene probably account for the Glass syndrome in the patient.
Key words:
SATB2 gene; Glass syndrome; Genetic mutation
Contributor Information
Lin Meili
Department of Clinical Laboratory, Jinhua Central Hospital, Jinhua, Zhejiang 321000, China
Yao Ruen
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
Lu Jing
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
Chen Wei
Department of Clinical Laboratory, Jinhua Central Hospital, Jinhua, Zhejiang 321000, China
Xu Yufei
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
Li Guoqiang
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
Yu Tingting
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
Qing Yanrong
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
Jin Xingming
Department of Developmental and Behavioral Pediatrics, Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
Wang Jian
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
