ArticleAmerican journal of medical genetics. Part A2017
Three families with mild PMM2-CDG and normal cognitive development.
Article in American journal of medical genetics. Part A, 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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Who cites it
16 citing papers in PubMed, 23 citations in OpenAlex.
- Establishing an auxin-inducible GFP nanobody-based acute protein knockdown system to mimic hypomorphic mutations during early medaka embryogenesis.Biology open · 2025Article
- Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies.Archives of Iranian medicine · 2025Review
- A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.Orphanet journal of rare diseases · 2025Review
- A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.JCI insight · 2024Article
- A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism.Cerebellum (London, England) · 2024Review
- Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.Human mutation · 2024Observational
- Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.Scientific reports · 2023Article
- Neurological Consequences of Congenital Disorders of Glycosylation.Advances in neurobiology · 2023Article
- Genotype-Phenotype Correlations in PMM2-CDG.Genes · 2021Article
- Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).Cerebellum (London, England) · 2021Article
- Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.Pediatric nephrology (Berlin, Germany) · 2021Article
- Congenital Disorders of Glycosylation from a Neurological Perspective.Brain sciences · 2021Review
- Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders.BMC medical genetics · 2019Article
- N-Glycosylation influences human corticosteroid-binding globulin measurements.Endocrine connections · 2019Article
- Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.Sudanese journal of paediatrics · 2018Review
- The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.JIMD reports · 2018Article
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Authors and funding
7 authors at 4 institutions in 4 countries.
Funding
Abstract
Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and lipids. PMM2-CDG is the most common subtype among the CDG. The severity of PMM2-CDG is variable. Patients often have a recognizable phenotype with neurological and multisystem symptoms that might cause early death. We report six patients from three families who are diagnosed with a clinically mild PMM2-CDG and have normal cognitive development. All these patients had delayed gross motor skills with mild-to-moderate neurological findings. Cerebellar hypoplasia was detected in all siblings for whom brain MRI was performed. In 5/6 children the Wechsler Intelligence Scale for Children (WISC) showed normal cognitive development with full scale IQ scores ranging from borderline to average. Four patients were diagnosed with PMM2-CDG at the age of 8 years or later as their neurological symptoms were quite mild and they had been able to participate in regular school programs. We report patients with p.Val231Met/p.Arg239Trp and p.Ile120Thr/p.Gly228Cys genotypes which may cause milder variants of PMM2-CDG.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.