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Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.
Chen, Yen-Lin; Wu, Wen-Bin; Wang, Pei; Yip, Ping-Keung; Wu, Yi-No; Lin, Ying-Hung; Lin, Wei-Ning.
Afiliación
  • Chen YL; Center for Precision Medicine and Genomics, Tri-Service General Hospital, Medical Defense Medical Center, Taipei, Taiwan.
  • Wu WB; Department of Pathology, Tri-Service General Hospital, Medical Defense Medical Center, Taipei, Taiwan.
  • Wang P; School of Medicine, College of Medicine, Fu Je Catholic University, New Taipei City, Taiwan.
  • Yip PK; School of Medicine, College of Medicine, Fu Je Catholic University, New Taipei City, Taiwan.
  • Wu YN; School of Medicine, College of Medicine, Fu Je Catholic University, New Taipei City, Taiwan.
  • Lin YH; Division of Neurology, Cardinal Tien Hospital, New Taipei City, Taiwan.
  • Lin WN; School of Medicine, College of Medicine, Fu Je Catholic University, New Taipei City, Taiwan.
Physiol Rep ; 11(24): e15887, 2023 Dec.
Article en En | MEDLINE | ID: mdl-38110300
ABSTRACT
Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb-girdle muscular dystrophy (LGMD) is a type of MD that mainly causes muscle atrophy within the shoulder and pelvic girdles. LGMD is classified into autosomal dominant (LGMD-D) and autosomal recessive (LGMD-R) inheritance patterns. Mutations in the Dysferlin gene (DYSF) are common causes of LGMD-R. However, genetic screening of DYSF mutations is rare in Taiwan. Herein, we identified a novel c.2867_2871del ACCAG deletion and a previously reported c.937+1G>A mutation in DYSF from a Taiwanese family with LGMD. The primary symptoms of both siblings were difficulty climbing stairs, walking on the toes, and gradually worsening weakness in the proximal muscles and increased creatine kinase level. Through pedigree analysis and sequencing, two siblings from this family were found to have compound heterozygous DYSF mutations (c. 937+1G>A and c. 2867_2871del ACCAG) within the separated alleles. These mutations induced early stop codons; if translated, truncated DYSF proteins will be expressed. Or, the mRNA products of these two mutations will merit the nonsense-mediated decay, might result in no dysferlin protein expressed. To our knowledge, this is the first report of a novel c.2867_2871del ACCAG deletion in DYSF. Further research is required to examine the effects of the novel DYSF mutation in Taiwanese patients with LGMD.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofia Muscular de Cinturas Límite: Humans Idioma: En Revista: Physiol Rep Año: 2023 Tipo del documento: Article País de afiliación: Taiwán Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofia Muscular de Cinturas Límite: Humans Idioma: En Revista: Physiol Rep Año: 2023 Tipo del documento: Article País de afiliación: Taiwán Pais de publicación: Estados Unidos