Analysis of SATB2 gene mutation in a child with Glass syndrome.
10.3760/cma.j.issn.1003-9406.2019.07.014
- Author:
Meili LIN
1
;
Ruen YAO
;
Jing LU
;
Wei CHEN
;
Yufei XU
;
Guoqiang LI
;
Tingting YU
;
Yanrong QING
;
Xingming JIN
;
Jian WANG
Author Information
1. Department of Clinical Laboratory, Jinhua Central Hospital, Jinhua, Zhejiang 321000, China. yaoruen@126.com.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple;
genetics;
Child;
Chromosome Deletion;
Chromosomes, Human, Pair 2;
Humans;
Intellectual Disability;
genetics;
Matrix Attachment Region Binding Proteins;
genetics;
Mutation;
Transcription Factors;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(7):712-715
- CountryChina
- Language:Chinese
-
Abstract:
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.
