Clinical characteristics and genetic analysis of a pedigree affected with neonatal central core disease
10.3760/cma.j.cn511374-20210207-00118
- VernacularTitle:一例新生儿中央轴空病的临床特点及家系基因变异分析
- Author:
Xiaoyun DONG
1
;
Xuan ZHENG
;
Fatao LIN
;
Lei FENG
;
Hong XIONG
;
Wenqing KANG
Author Information
1. 郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院儿童保健科，郑州 450000
- Keywords:
Central core disease;
Ryanodine receptor 1;
Gene variant
- From:
Chinese Journal of Medical Genetics
2022;39(6):607-610
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the possible causative factors of central core disease(CCD), the clinical features of a neonatal case with CCD and five patients in the pedigree line were analyzed for RYR1 gene variant.Methods:Medical and family history inquiries and detailed clinical examinations were performed in the proband . High-throughput sequencing technology was applied to analyze the gene variant of the proband , and Sanger sequencing was applied to verify the pedigree distribution of the variant.Results:The whole exon sequencing results showed that the proband has a missense variant of c. 14591 A>C (p.Tyr4864Ser) in the RYR1 gene which was unreported previously; Sanger sequencing results showed that the father, grandfather, the eldest aunt and second aunt of the proband all carried the same variant. The c. 14591 A>C variant of RYR1 gene was predicted to be a likely pathogenic (PM2+ PM5+ PP1+ PP3) according to the American College of Medical Genetics and Genomics standards and guidelines. Conclusions:The RYR1 gene c. 14591 A >C (p.Tyr4864Ser) variant may be the genetic cause of the pedigree and genetic testing helps to clarify the diagnosis. Identification of this variant has enriched the variant spectrum of the RYR1 gene.
