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

Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal Of Medical Genetics

Published: December 30, 2022

Abstract

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.

Conclusions: 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.

Authors

Xinwei Hou, Jianjun Wang, Yi Lu, Daiyue Yu, Jiaming Yang, Nan Li, Huirong Yang, Kai Wu

Relevant Conditions

Brain Tumor, Hypothalamic Tumor, Polydactyly, Pallister-Hall Syndrome

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

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