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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 in Chinese | WPRIM | ID: wpr-970885
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.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Polydactyly / Kruppel-Like Transcription Factors / Pallister-Hall Syndrome / Zinc Finger Protein Gli3 / Hamartoma / Nerve Tissue Proteins Limits: Child / Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2023 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Polydactyly / Kruppel-Like Transcription Factors / Pallister-Hall Syndrome / Zinc Finger Protein Gli3 / Hamartoma / Nerve Tissue Proteins Limits: Child / Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2023 Type: Article