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Identification of pathogenic variant in a Chinese pedigree affected with non-syndromic cleft lip and palate / 中华医学遗传学杂志
Article in Chinese | WPRIM | ID: wpr-879521
Responsible library: WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with non-syndromic cleft lip and cleft palate (NSCLP).@*METHODS@#With informed consent obtained, members of the pedigree were subjected to clinical examination and history taking to exclude syndromic cleft lip and palate. One affected member was subjected to whole-exome sequencing and bioinformatics analysis. Candidate variant was verified by Sanger sequencing and co-segregation analysis of her family members and 100 unrelated healthy individuals.@*RESULTS@#Whole-exome sequencing and co-segregation analysis showed that all affected members of this pedigree have carried a heterozygous missense c.253A>G (p.Cys85Arg) variant in exon 4 of the IRF6 gene, which has co-segregated with the phenotype and was not found among the 100 unrelated healthy individuals.@*CONCLUSION@#The missense c.253A>G variant in exon 4 of the IRF6 gene probably underlay the NSCLP in this pedigree.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Brain / Female / Humans / China / Cleft Lip / Cleft Palate / Mutation, Missense / Interferon Regulatory Factors / Whole Exome Sequencing Country/Region as subject: Asia Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Brain / Female / Humans / China / Cleft Lip / Cleft Palate / Mutation, Missense / Interferon Regulatory Factors / Whole Exome Sequencing Country/Region as subject: Asia Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article