ArticleJournal of cellular and molecular medicine2017
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.
Article in Journal of cellular and molecular medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 23 citations in OpenAlex.
- Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.Molecular genetics & genomic medicine · 2019Trial
- Development of a machine learning model for predicting pre-sarcopenia in adults with abdominal obesity: a cross-sectional study.Journal of endocrinological investigation · 2026Article
- Identification ofFrontiers in genetics · 2022Article
- POMT1 and POMT2 gene mutations result in 2 cases ofZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2021Article
- Identification of a de novo TSC2 variant in a Han-Chinese family with tuberous sclerosis complex.Journal of the Chinese Medical Association : JCMA · 2021Article
- Article
- Digenic Variants in theFrontiers in neuroscience · 2021Article
- Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.Bioscience reports · 2020Article
- Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.Orphanet journal of rare diseases · 2019Article
- COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I.Molecular genetics & genomic medicine · 2019Article
- A Novel Nonsense Mutation inFrontiers in genetics · 2019Article
- Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.Journal of cellular and molecular medicine · 2018Article
- A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis.Journal of cellular and molecular medicine · 2018Article
- Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2018Article
- Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.Journal of molecular neuroscience : MN · 2018Article
- Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.Journal of cellular and molecular medicine · 2018Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Muscular dystrophy-dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders, characterized by congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy accompanied by brain and ocular abnormalities, resulting from aberrant alpha-dystroglycan glycosylation. Exome sequencing and Sanger sequencing were performed on a six-generation consanguineous Han Chinese family, members of which had autosomal recessive MDDG. Compound heterozygous mutations, c.1338+1G>A (p.H415Kfs*3) and c.1457G>C (p.W486S, rs746849558), in the protein O-mannosyltransferase 1 gene (POMT1), were identified as the genetic cause. Patients that exhibited milder MDDG manifested as later-onset progressive proximal pelvic, shoulder girdle and limb muscle weakness, joint contractures, mental retardation and elevated creatine kinase, without structural brain or ocular abnormalities, were further genetically diagnosed as MDDGC1. The POMT1 gene splice-site mutation (c.1338+1G>A) which leads to exon 13 skipping and results in a truncated protein may contribute to a severe phenotype, while the allelic missense mutation (p.W486S) may reduce MDDG severity. These findings may expand phenotype and mutation spectrum of the POMT1 gene. Clinical diagnosis supplemented with molecular screening may result in more accurate diagnoses of, prognoses for, and improved genetic counselling for this disease.
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