ArticleBMC pediatrics2019
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report.
Article in BMC pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Expanding the Genotypic Spectrum of POMGNT1-Related Muscle-Eye-Brain Disease: A Case Report.Molecular genetics & genomic medicine · 2026Article
- Article
- Alterations in expression and localization of POMGNT1 in the APP/PS1 mouse model of Alzheimer's disease.Genes & diseases · 2024Article
- Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).bioRxiv : the preprint server for biology · 2024Article
- Uniparental disomy for chromosome 1 withFrontiers in genetics · 2023Article
- Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.International journal of molecular sciences · 2022Article
- Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview.Journal of molecular neuroscience : MN · 2022Review
- Analysis of the expression and distribution of protein O-linked mannose β1,2-Frontiers in neuroanatomy · 2022Article
- Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population.PloS one · 2021Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDystroglycanopathies, 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.
conclusionsThe present case report shows diagnostic algorithm step by step and helps better understand the clinical and genetic features of congenital muscular dystrophy.
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