ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 52 papers.
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52 citing papers in PubMed, 98 citations in OpenAlex.
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- The Application Value of Early Amplitude-Integrated Electroencephalogram in a Newborn with Nonketotic Hyperglycinemia: A Rare Case Report.AJP reports · 2025Article
- Emergency Management of Intoxication-Type Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2025Review
- Inherited metabolic epilepsies-established diseases, new approaches.Epilepsia open · 2024Review
- Anesthetic management using desflurane and nitrous oxide in a child with non-ketotic hyperglycinemia: a case report.JA clinical reports · 2024Article
- Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.Journal of inherited metabolic disease · 2024Article
- The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype.Orphanet journal of rare diseases · 2024Article
- (Zebra)fishing for nephrogenesis genes.Tissue barriers · 2024Review
- Natural history and outcome of nonketotic hyperglycinemia in China.Frontiers in neurology · 2024Article
- Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.Human molecular genetics · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
20 authors at 8 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe study's purpose was to delineate the genetic mutations that cause classic nonketotic hyperglycinemia (NKH).
methodsGenetic results, parental phase, ethnic origin, and gender data were collected from subjects suspected to have classic NKH. Mutations were compared with those in the existing literature and to the population frequency from the Exome Aggregation Consortium (ExAC) database.
resultsIn 578 families, genetic analyses identified 410 unique mutations, including 246 novel mutations. 80% of subjects had mutations in GLDC. Missense mutations were noted in 52% of all GLDC alleles, most private. Missense mutations were 1.5 times as likely to be pathogenic in the carboxy terminal of GLDC than in the amino-terminal part. Intragenic copy-number variations (CNVs) in GLDC were noted in 140 subjects, with biallelic CNVs present in 39 subjects. The position and frequency of the breakpoint for CNVs correlated with intron size and presence of Alu elements. Missense mutations, most often recurring, were the most common type of disease-causing mutation in AMT. Sequencing and CNV analysis identified biallelic pathogenic mutations in 98% of subjects. Based on genotype, 15% of subjects had an attenuated phenotype. The frequency of NKH is estimated at 1:76,000.
conclusionThe 484 unique mutations now known in classic NKH provide a valuable overview for the development of genotype-based therapies.Genet Med 19 1, 104-111.
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