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A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.

Authors: Al-Zaidy, Samiah A  Malik, Vinod  Kneile, Kelley  Rosales, Xiomara Q  Gomez, Ana Maria  Lewis, Sarah  Hashimoto, Sayaka  Gastier-Foster, Julie  Kang, Peter  Darras, Basil  Kunkel, Louis  Carlo, Jose  Sahenk, Zarife  Moore, Steven A  Pyatt, Robert  Mendell, Jerry R 
Citation: Al-Zaidy SA, etal., Mol Genet Genomic Med. 2015 Mar;3(2):92-8. doi: 10.1002/mgg3.125. Epub 2015 Jan 8.
Pubmed: (View Article at PubMed) PMID:25802879
DOI: Full-text: DOI:10.1002/mgg3.125

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.


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CRRD Object Information
CRRD ID: 13605619
Created: 2018-06-11
Species: All species
Last Modified: 2018-06-11
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.