Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report

Mutaz Amin ¹, Yousuf Bakhit ², Mahmoud Koko ^{3 4}, Mohamed Osama Mirgahni Ibrahim ¹, MA Salih ⁵, Muntaser Ibrahim ³ and Osheik A Seidi ⁶

¹ Department of Biochemistry, Faculty of Medicine, University of Khartoum, Sudan; ² Department of Basic Medical sciences, Faculty of Dentistry, University of Khartoum, Sudan; ³ Department of Molecular biology, Institute of Endemic Diseases, University of Khartoum, Sudan; ⁴ Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tuebingen, Germany; ⁵ Department of Bioinformatics, Africa city of technology, Sudan; ⁶ Department of Medicine, Faculty of Medicine, University of Khartoum, Sudan

Congenital muscular dystrophies (CMD) are a heterogeneous group of disorders caused by mutations in musculoskeletal proteins. The most common type of CMD in Europe is Merosin-deficient CMD caused by mutations in laminin-α2 protein. Very few studies reported pathogenic variants underlying these disorders especially from Africa. In this study we report a rare variant (p.Arg148Trp, rs752485547) in LAMA2 gene causing a mild form of Merosin-deficient CMD in a Sudanese family. The family consisted of two patients diagnosed clinically with congenital muscular dystrophy since childhood and five healthy siblings born to consanguineous parents. Whole exome sequencing was performed for the two patients and a healthy sibling. A rare missense variant (p.Arg148Trp, rs752485547) in LAMA2 gene was discovered and verified using Sanger sequencing. The segregation pattern was consistent with autosomal recessive inheritance. The pathogenicity of this variant was predicted using bioinformatics tools. More studies are needed to explore the whole spectrum of mutations in CMD in patients from Sudan and other parts of the world.

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