[Analysis of SATB2 gene mutation in a child with Glass syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(7): 712-715, 2019 Jul 10.
Article
in Zh
| MEDLINE
| ID: mdl-31302918
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Transcription Factors
/
Abnormalities, Multiple
/
Matrix Attachment Region Binding Proteins
/
Intellectual Disability
Limits:
Child
/
Humans
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Journal subject:
GENETICA MEDICA
Year:
2019
Type:
Article
Affiliation country:
China