Analysis of SATB2 gene mutation in a child with Glass syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 712-715, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-776823
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:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Transcription Factors
/
Abnormalities, Multiple
/
Chromosomes, Human, Pair 2
/
Chromosome Deletion
/
Matrix Attachment Region Binding Proteins
/
Genetics
/
Intellectual Disability
/
Mutation
Limits:
Child
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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