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[Analysis of variant of GLI3 gene in a child featuring autosomal dominant Pallister-Hall syndrome].
- Source :
-
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Jan 10; Vol. 40 (1), pp. 92-95. - Publication Year :
- 2023
-
Abstract
- Objective: To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome (PHS).<br />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.<br />Results: Genetic testing revealed that the child has harbored a heterozygous c.3320&#95;3330delGGTACGAGCAG (p.G1107Afs×18) variant of the GLI3 gene. Neither parent was found to carry the same variant.<br />Conclusion: The c.3320&#95;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.
Details
- Language :
- Chinese
- ISSN :
- 1003-9406
- Volume :
- 40
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 36585009
- Full Text :
- https://doi.org/10.3760/cma.j.cn511374-20220224-00125