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

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.