[Analysis of variant of GLI3 gene in a child featuring autosomal dominant Pallister-Hall syndrome].

OBJECTIVE

To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome (PHS).

METHODS

DNA was extracted from peripheral blood sample from the child and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.

RESULTS

Genetic testing revealed that the child has harbored a heterozygous c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) variant of the GLI3 gene. Neither parent was found to carry the same variant.

CONCLUSION

The c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) frameshift variant of the GLI3 gene probably underlay the pathogenesis of PHS in this child. Genetic testing should be considered for patients featuring hypothalamic hamartoma and central polydactyly.