Ljelja Muaremoska Kanzoska, Filip Duma, Valentina Dukovska, Natalija Angelkova, Shpresa Muaremoska Useini, Mevmed Djaferi, Ana Karandjinska Radevska


Introduction: LAMA2 Associated Muscular Dystrophy (LAMA2-RD) is one of the most common forms of congenital muscular dystrophy worldwide. Mutations in the LAMA2 gene affect the production of the α2 subunit of lamin-211 (merosine) and result in partial or complete deficiency of lamin-211. Inheritance is usually autosomal recessive.

Case report: We present a patient who is dual heterozygous for two pathogenic variants in the LAMA2 gene, as demonstrated by targeted resection of 4800 clinically significant genes. c.4474dupT, p. (Tyr1492LeufsTer11), inherited from the mother and c.7732C> T, p. (Arg2578Ter), inherited from the father. With this genotype the patient is confirmed autosomal recessive disease, LAMA2-RD. Variant c.4474dupT, p. (Tyr1492LeufsTer11), in exon 31 of the LAMA2 gene, is a change that has not been reported in the literature.

Conclusion: Genetic confirmation of the diagnosis is important for genetic counseling, prenatal diagnosis for each subsequent pregnancy in the family because the risk of an affected child is 25%.

Keywords: LAMA2 associated muscular dystrophy, genetic testing of clinically relevant genes, genetic counseling.

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