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
Chinese Journal of Medical Genetics
;
(6): 52-55, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-879521
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Encéfalo
/
China
/
Labio Leporino
/
Fisura del Paladar
/
Mutación Missense
/
Factores Reguladores del Interferón
/
Secuenciación del Exoma
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Femenino
/
Humanos
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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