[Analysis of SATB2 gene mutation in a child with Glass syndrome]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):712-715. doi: 10.3760/cma.j.issn.1003-9406.2019.07.014.
[Article in 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.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosome Deletion
  • Chromosomes, Human, Pair 2
  • Humans
  • Intellectual Disability / genetics*
  • Matrix Attachment Region Binding Proteins / genetics*
  • Mutation
  • Transcription Factors / genetics*

Substances

  • Matrix Attachment Region Binding Proteins
  • SATB2 protein, human
  • Transcription Factors