Title: Gene mutation analysis of RYR1 shared by a family with central core disease
Abstract: Objective
To do genetic diagnosis in a central core disease (CCD) (autosomal dominant disease) family. Find out the pathogenesis of CCD and the association between genotypes and phenotypes in this family.
Methods
Family history investigation, pedigree analysis and clinical examination were performed. Clinical data were collected and genomic DNA was extracted from the blood samples of the family members. Polymerase chain reaction method was used to amplified C-terminal domain (exon 90~104) region of the RYR1 gene. The amplified products were sequenced and analyzed.
Results
A point mutation (c.14690G>A) was detected in the proband, her mother and sister, while it is not found in the healthy members and 50 controls. This mutation leads to an amino acid change, e. g. G4897D.
Conclusion
The mutation (14690G>A) was the main cause in this CCD family. And this mutation may present different clinical phenotypes and pathologic changes.
Key words:
Central core disease; Ryanodine receptor 1; Gene mutation
Publication Year: 2015
Publication Date: 2015-04-15
Language: en
Type: article
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