Analysis of variant of GLI3 gene in a child featuring autosomal dominant Pallister-Hall syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 92-95, 2023.
Article
en Zh
| WPRIM
| ID: wpr-970885
Biblioteca responsable:
WPRO
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.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Polidactilia
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Factores de Transcripción de Tipo Kruppel
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Síndrome de Pallister-Hall
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Proteína Gli3 con Dedos de Zinc
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Hamartoma
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Proteínas del Tejido Nervioso
Límite:
Child
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2023
Tipo del documento:
Article