Analysis of gene variant in a Chinese pedigree with preaxial polydactyly / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1106-1109, 2021.
Article
em Zh
| WPRIM
| ID: wpr-922007
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To analyze the pathogenic variant of preaxial polydactyly in a Chinese Han pedigree and identify the cause of polydactyly.@*METHODS@#The peripheral blood DNA of the proband and her parents was extracted. The polydactyly-related genes were detected by trio whole exome sequencing, and the suspected pathogenic gene was screened out. Sanger sequencing was applied to other members of the pedigree.@*RESULTS@#The results of gene sequencing showed that the LMBR1 gene had a heterozygous variant of c.423+4909(IVS5)C>T in 6 patients of the pedigree. The same variant was not detected in family members with normal phenotype. Based on the ACMG guidelines, c.423+4909(IVS5)C>T of the LMBR1 gene was predicted to be pathogenic (PM1+PM2+PP1-S(PS)+PP4+PP5).@*CONCLUSION@#The heterozygous C>T variant at position 4909 of intron 5 of the LMBR1 gene probably underlies the disease in this pedigree.
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Base de dados:
WPRIM
Assunto principal:
Linhagem
/
Polegar
/
China
/
Polidactilia
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Sequenciamento do Exoma
/
Mutação
Limite:
Female
/
Humans
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Article