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
в Zh
| WPRIM
| ID: wpr-970885
Ответственная библиотека:
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.
Полный текст:
1
База данных:
WPRIM
Основная тема:
Polydactyly
/
Kruppel-Like Transcription Factors
/
Pallister-Hall Syndrome
/
Zinc Finger Protein Gli3
/
Hamartoma
/
Nerve Tissue Proteins
Пределы темы:
Child
/
Humans
Язык:
Zh
Журнал:
Chinese Journal of Medical Genetics
Год:
2023
Тип:
Article