Detection and analysis of an ATP2A2 mutation in a family with Darier-White disease / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 794-797, 2019.
Article
en Zh
| WPRIM
| ID: wpr-776804
Biblioteca responsable:
WPRO
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:
1
Base de datos:
WPRIM
Asunto principal:
Linaje
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Mutación Missense
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ATPasas Transportadoras de Calcio del Retículo Sarcoplásmico
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Genética
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Heterocigoto
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Enfermedad de Darier
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Año:
2019
Tipo del documento:
Article