Two Novel Variants of the CAPN3 Gene in Chinese Patients with Limb-Girdle Muscular Dystrophy Recessive 1.

Zhang, Lulu; Zhang, Yi; Han, Chunru; Jiang, Juean; Jiang, Jianhua; Cai, Xiuying; Yu, Liqiang; Qi, Huan; Fang, Qi; Ding, Dongxue

Zhang, Lulu; Zhang, Yi; Han, Chunru; Jiang, Juean; Jiang, Jianhua; Cai, Xiuying; Yu, Liqiang; Qi, Huan; Fang, Qi; Ding, Dongxue.

Afiliación

Zhang L; Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, China, oaoalu@163.com.
Zhang Y; Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Han C; Department of Neurology, The Affiliated Changzhou NO.2 People's Hospital of Nanjing Medical University, Changzhou, China.
Jiang J; Department of Neurology, The People's Hospital of Suzhou New District, Suzhou, China.
Jiang J; Department of General Medicine, The First Affiliated Hospital of Soochow University, Suzhou, China.
Cai X; Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Yu L; Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Qi H; Department of General Medicine, The First Affiliated Hospital of Soochow University, Suzhou, China.
Fang Q; Department of General Medicine, The First Affiliated Hospital of Soochow University, Suzhou, China.
Ding D; Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, China.

Hum Hered ; 89(1): 52-59, 2024.

Article en En | MEDLINE | ID: mdl-38830343

ABSTRACT

ABSTRACT

INTRODUCTION:

Recessive mutations in the CAPN3 gene can lead to limb-girdle muscular dystrophy recessive 1 (LGMD R1). Targeted next-generation sequencing facilitates the discovery of new mutations linked with disease, owing to its ability to selectively enrich specific genomic regions.

METHODS:

We performed targeted next-generation sequencing of all exons of the CAPN3 gene in 4 patients with sporadic limb-girdle muscular dystrophy (LGMD) and further analyzed the effects of the novel identified variant using various software tools.

RESULTS:

We found 5 variants in CAPN3 gene in 4 patients, c.82_83insC (insertion mutation) and c.1115+2T>C (splicing mutation) are reported for the first time in CAPN3 (NM_000070.2). The bioinformatics analysis indicated that these two novel variants affected CAPN3 transcription as well as translation.

DISCUSSION:

Our findings reveal previously unreported splicing mutation and insertion mutation in CAPN3 gene, further expanding the pathogenic gene profile of LGMD.

Asunto(s)

Pueblo Asiatico; Calpaína; Proteínas Musculares; Distrofia Muscular de Cinturas; Humanos; Calpaína/genética; Distrofia Muscular de Cinturas/genética; Proteínas Musculares/genética; Masculino; Femenino; Pueblo Asiatico/genética; Secuenciación de Nucleótidos de Alto Rendimiento; Adulto; Mutación/genética; China; Adolescente; Exones/genética; Adulto Joven; Pueblos del Este de Asia

Palabras clave

CAPN3; Limb-girdle muscular dystrophy recessive 1; Muscle weakness; Novel mutations; Splice mutation

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Calpaína / Pueblo Asiatico / Distrofia Muscular de Cinturas / Proteínas Musculares Límite: Adolescent / Adult / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Hum Hered Año: 2024 Tipo del documento: Article Pais de publicación: Suiza

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