Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report

• Main Authors: Kondakova Olga Borisovna, Krasnenko Anna Yurievna, Tsukanov Kirill Yurievich, Klimchuk Olesya Igorevna, Korostin Dmitriy Olegovich, Davidova Anna Igorevna, Batysheva Tatyana Timofeevna, Zhurkova Natalia Vyacheslavovna, Surkova Ekaterina Ivanovna, Shatalov Peter Alekseevich, Ilinsky Valery Vladimirovich
• Format: Article
• Language: English
• Published: BMC 2019-04-01
• Series: BMC Pediatrics
• Subjects: Dystrophy-dystroglycanopathy; POMGNT1; MEB disease
• Online Access: http://link.springer.com/article/10.1186/s12887-019-1470-2

Abstract Background Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Muscle-eye-brain disease (or muscular dystrophy-dystroglycanopathy type 3 A) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Case presentation We report clinical and genetic characteristics of a 6-year-old boy affected by muscular dystrophy-dystroglycanopathy. He has severe a delay in psychomotor and speech development, muscle hypotony, congenital myopia, partial atrophy of the optic nerve disc, increased level of creatine kinase, primary-muscle lesion, polymicrogyria, ventriculomegaly, hypoplasia of the corpus callosum, cysts of the cerebellum. Exome sequencing revealed compound heterozygous mutations in POMGNT1 gene (transcript NM_001243766.1): c.1539 + 1G > A and c.385C > T. Conclusions The present case report shows diagnostic algorithm step by step and helps better understand the clinical and genetic features of congenital muscular dystrophy.