Diagnosis of a case with type 2A of limb-girdle muscular dystrophy by high-throughput sequencing

doi:10.3969/j.issn.1673-8640.2016.12.018

Abstract

Abstract:

Objective To perform the clinical molecular diagnosis in a Chinese Han boy with muscular dystrophy.Methods This boy had been diagnosed to exclude Duchenne and Becker muscular dystrophy（DMD/BMD）. The whole exome sequencing（WES） was performed for his peripheral blood genomic DNA,and the relevant mutations identified by WES were verified by Sanger sequencing. Results WES results revealed that calpin 3 gene（CAPN3） existed 2 compound heterozygous mutations. One is a heterozygous nonsense mutation c.439C>T,p.Arg147* in exon 3,while exon 13 had another heterozygous missense mutation c.1621C>T, p. Arg541Trp. Conclusions By high-throughput sequencing,the patient is eventually diagnosed as type 2A of limb-girdle muscular dystrophy（LGMD）.

Key words: Limb-girdle muscular dystrophy, Calpin 3, Whole exome sequencing, Gene mutation

CLC Number:

R446.1

HU Juan, SHEN Chunmei, WANG Jian, LI Niu. Diagnosis of a case with type 2A of limb-girdle muscular dystrophy by high-throughput sequencing[J]. Laboratory Medicine, 2016, 31(12): 1093-1096.

Figures/Tables 2

References 15

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项目	结果	参考范围	检测方法
ALT（U/L）	229	0~75	速率法
AST（U/L）	227	8~38	速率法
CK（U/L）	7 795	39~308	速率法
CK-MB（U/L）	235	0~25	免疫抑制法
LDH（U/L）	1 168	106~211	速率法
α-HBDH（U/L）	1 031	72~182	速率法

项目	结果	参考范围	检测方法
ALT（U/L）	229	0~75	速率法
AST（U/L）	227	8~38	速率法
CK（U/L）	7 795	39~308	速率法
CK-MB（U/L）	235	0~25	免疫抑制法
LDH（U/L）	1 168	106~211	速率法
α-HBDH（U/L）	1 031	72~182	速率法

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