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Article

Novel variants causing megalencephalic leukodystrophy in Sudanese families.

Journal of human genetics - 1 Mar 2022

Amin Mutaz, Vignal Cedric, Hamed Ahlam A A, Mohammed Inaam N, Elseed Maha A, Drunat Severine, Babai Arwa, Eltaraifee Esraa, Elbadi Iman, Abubaker Rayan, Mustafa Doaa, Yahia Ashraf, Koko Mahmoud, Osman Melka, Bakhit Yousuf, Elshafea Azza, Alsiddig Mohamed, Haroun Sahwah, Lelay Gurvan, Elsayed Liena E O, Ahmed Ammar E, Boespflug-Tanguy Odile, Dorboz Imen

Abstract excerpt

Mutations in MLC1 cause megalencephalic leukoencephalopathy with subcortical cysts (MLC), a rare form of leukodystrophy characterized by macrocephaly, epilepsy, spasticity, and slow mental deterioration. Genetic studies of MLC are lacking from many parts of the world, especially in Sub-Saharan Africa. Genomic DNA was extracted for 67 leukodystrophic patients from 43 Sudanese families. Mutations were screened...

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PMID: 34504271
DOI: 10.1038/s10038-021-00945-7

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