Abstract

Limb-girdle muscular dystrophy type 2C (LGMD2C) is considered one of the severe forms of childhood-onset muscular dystrophy. The geographical distribution of founder mutations in the SGCG gene has a prominent effect on the prevalence of LGMD2C in certain populations. The aim of this study was to confirm the hypothesis that the c.787G>A (p.E263K) mutation in the SGCG gene is a founder mutation among Puerto Rican Hispanics and to characterize the associated clinical and immunohistochemical phenotype. Genotyping of six polymorphic microsatellite markers internal to (D13S232) and flanking (D13S175, D13S292, D13S787, D13S1243, D13S283) the SGCG gene was performed on four unrelated Puerto Rican patients with LGMD2C. Preserved ambulation to the second decade of life was observed in at least two subjects. Immunostaining of skeletal muscle demonstrated absence of γ-sarcoglycan in all affected subjects. Two markers, D13S232 and D13S292, were highly informative and confirmed that all four families share the haplotype of the mutant allele. Our findings confirm that the E263K missense mutation in the SGCG gene is a founder mutation in Puerto Rican Hispanics. A slowly progressive disease course with prolonged preservation of ambulation can be seen in association with this mutation, providing evidence for phenotypic variability.

Highlights

  • The limb-girdle muscular dystrophies (LGMDs) are a clinically and genetically heterogeneous group of disorders

  • The sarcoglycanopathies form a subgroup of autosomal recessive LGMDs (LGMD2C-F) that result from mutations in the genes encoding c, a, b, and d-sarcoglycan, respectively

  • We describe two unrelated Limb-girdle muscular dystrophy type 2C (LGMD2C) patients of Hispanic descent from the island of Puerto Rico that share a c.787G>A (p.E263K) mutation within exon 8 of the SGCG gene (Duncan et al 2006; Dicapua and Patwa 2014) and a slowly progressive form of LGMD2C with prolonged preservation of ambulation

Read more

Summary

Introduction

The limb-girdle muscular dystrophies (LGMDs) are a clinically and genetically heterogeneous group of disorders. The sarcoglycanopathies form a subgroup of autosomal recessive LGMDs (LGMD2C-F) that result from mutations in the genes encoding c-, a-, b-, and d-sarcoglycan, respectively. These transmembrane glycoproteins form the a 2015 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc

Objectives
Methods
Results
Conclusion
Full Text
Paper version not known

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.