Detection and analysis of an ATP2A2 mutation in a family with Darier-White disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 794-797, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-776804
ABSTRACT
OBJECTIVE@#To explore the molecular basis for a pedigree affected with Darier-White disease.@*METHODS@#Genomic DNA was isolated from 3 patients and 1 unaffected member from the pedigree, as well as 80 healthy controls. Targeted sequence capture and next-generation sequencing were used to screen mutations of skin disease-related genes. Candidate mutations were verified by Sanger sequencing, and co-segregation analysis was carried out to confirm the pathogenicity of mutation. Conservation analysis and protein structure and function were also predicted with Bioinformatic tools.@*RESULTS@#A heterozygous mutation c.2246G>T (p.G749V) was identified in exon 15 of ATP2A2 gene in all 3 patients from the pedigree, but not in the unaffected member or 80 healthy controls. The corresponding amino acid was highly conserved, and mutation of which can lead to structural and functional changes of the protein.@*CONCLUSION@#The c.2246G>T missense mutation of the ATP2A2 gene probably underlies the Darier-White disease in this pedigree by causing damages to the structure and function of sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (SERCA2).
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Mutação de Sentido Incorreto
/
ATPases Transportadoras de Cálcio do Retículo Sarcoplasmático
/
Genética
/
Heterozigoto
/
Doença de Darier
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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