1.Analysis of variant of GLI3 gene in a child featuring autosomal dominant Pallister-Hall syndrome.
Xinwei HOU ; Jianjun WANG ; Yi LU ; Daiyue YU ; Jiaming YANG ; Nan LI ; Huirong YANG ; Kai WU
Chinese Journal of Medical Genetics 2023;40(1):92-95
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.
Humans
;
Child
;
Pallister-Hall Syndrome/genetics*
;
Kruppel-Like Transcription Factors/genetics*
;
Zinc Finger Protein Gli3/genetics*
;
Polydactyly/genetics*
;
Hamartoma/pathology*
;
Nerve Tissue Proteins/genetics*
Result Analysis
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