Abstract:
BACKGROUND AND PURPOSE:Diagnostic evaluation of limb-girdle muscular dystrophy type 2A (LGMD2A) involves specialized studies on muscle biopsy and mutation analysis. Mutation screening is the gold standard for diagnosis but is difficult as the gene is large and multiple mutations are known. This study evaluates the utility of two known founder mutations as a first-line diagnostic test for LGMD2A in the Agarwals. MATERIALS AND METHODS:The Agarwals with limb-girdle muscular dystrophy (LGMD) phenotype were analyzed for two founder alleles (intron 18/exon 19 c.2051-1G>T and exon 22 c.2338G>C). Asymptomatic first-degree relatives of patients with genetically confirmed mutations and desirous of counseling were screened for founder mutations. RESULTS:Founder alleles were detected in 26 out of 29 subjects with LGMD phenotype (89%). The most common genotype observed was homozygous for exon 22 c.2338 G>C mutation followed by compound heterozygosity. Single founder allele was identified in two. Single allele was detected in two of the five asymptomatic relatives. CONCLUSION:Eighty-nine percent of the Agarwals having LGMD phenotype have LGMD2A resulting from founder mutations. Founder allele analysis can be utilized as the initial noninvasive diagnostic step for index cases, carrier detection, and counseling.
journal_name
Ann Indian Acad Neuroljournal_title
Annals of Indian Academy of Neurologyauthors
Khadilkar SV,Chaudhari CR,Dastur RS,Gaitonde PS,Yadav JGdoi
10.4103/0972-2327.175435subject
Has Abstractpub_date
2016-01-01 00:00:00pages
108-11issue
1eissn
0972-2327issn
1998-3549pii
AIAN-19-108journal_volume
19pub_type
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journal_title:Annals of Indian Academy of Neurology
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