Analysis of variant of GLI3 gene in a child featuring autosomal dominant Pallister-Hall syndrome.
10.3760/cma.j.cn511374-20220224-00125
- Author:
Xinwei HOU
1
;
Jianjun WANG
;
Yi LU
;
Daiyue YU
;
Jiaming YANG
;
Nan LI
;
Huirong YANG
;
Kai WU
Author Information
1. Department of Pediatric Surgery, Zhujiang Hospital of Southern Medical University, Guangzhou, Guangdong 510282, China. aibeike@126.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Child;
Pallister-Hall Syndrome/genetics*;
Kruppel-Like Transcription Factors/genetics*;
Zinc Finger Protein Gli3/genetics*;
Polydactyly/genetics*;
Hamartoma/pathology*;
Nerve Tissue Proteins/genetics*
- From:
Chinese Journal of Medical Genetics
2023;40(1):92-95
- CountryChina
- Language:Chinese
-
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.
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.
