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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Intrafamilial phenotypic heterogeneity related to a new DMD splice site variant

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Author(s):
Coimbra Neto, Antonio Rodrigues [1] ; de Carvalho, Samara Camacari [2, 3] ; Leoni, Tauana Bernardes [1] ; Iwabe, Cristina [1] ; Araujo Costa Silva, Thiago Quinaglia [4] ; Coelho-Filho, Otavio Rizzi [4] ; Marques, Maria Julia [2] ; Nucci, Anamarli [1] ; Franca Jr, Marcondes Cavalcante
Total Authors: 9
Affiliation:
[1] Univ Campinas UNICAMP, Dept Neurol, Sch Med Sci, 126 Cidade Univ Zeferino Vaz, BR-13083887 Campinas, SP - Brazil
[2] Univ Campinas UNICAMP, Inst Biol, Dept Struct & Funct Biol, Campinas, SP - Brazil
[3] Univ Ctr Herminio Ometto Fdn, Postgrad Program Biomed Sci, Araras, SP - Brazil
[4] Univ Campinas UNICAMP, Sch Med Sci, Dept Internal Med, Discipline Cardiol, Campinas, SP - Brazil
Total Affiliations: 4
Document type: Journal article
Source: Neuromuscular Disorders; v. 31, n. 8, p. 788-797, AUG 2021.
Web of Science Citations: 0
Abstract

Dystrophinopathies are a group of X-linked neuromuscular disorders that result from pathogenic variants in the DMD gene. Their pathophysiological substrate is the defective expression of dystrophin in many tissues. While patients from the same pedigree usually present similar dystrophin expression and clinical course, the extent of cardiac and skeletal muscle involvement may not correlate in the same individual. We identified a new splice site variant c.2803+5G>C (NM\_004006) ClinVar VCV000803902, located in intron 22 of DMD in a Brazilian family that present a broad phenotypic and histological heterogeneity. One of the subjects had a typical Duchenne muscular dystrophy (DMD) phenotype, whereas the others had Becker muscular dystrophy (BMD). Cardiac involvement was remarkable in some of the BMD patients, but not in the DMD patient. Western blot analysis of skeletal muscle revealed much lower levels of calsequestrin in the most severely affected patient compared to his brother, whose phenotype is BMD, highlighting the potential role of proteins involved in skeletal muscle calcium homeostasis in differential degrees of dystrophinopathies. (C) 2021 Elsevier B.V. All rights reserved. (AU)

FAPESP's process: 13/07559-3 - BRAINN - The Brazilian Institute of Neuroscience and Neurotechnology
Grantee:Fernando Cendes
Support Opportunities: Research Grants - Research, Innovation and Dissemination Centers - RIDC