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Published on: September 19, 2019
[Analysis of SATB2 gene mutation in a child with Glass syndrome]
1Department of Clinical Laboratory, Jinhua Central Hospital, Jinhua, Zhejiang 321000, China. yaoruen@126.com.
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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