ArticleAmerican journal of medical genetics. Part A2018
Phenotypic heterogeneity of ZMPSTE24 deficiency.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 5 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
5 citing papers in PubMed.
- A review of Hallermann-Streiff syndrome demonstrates clinical overlap with other conditions.Orphanet journal of rare diseases · 2026Review
- Case report: Disease phenotype associated with simultaneous biallelic mutations inFrontiers in genetics · 2022Article
- Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.Molecular genetics & genomic medicine · 2021Article
- Familial Partial Lipodystrophy (FPLD): Recent Insights.Diabetes, metabolic syndrome and obesity : targets and therapy · 2020Review
- Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.Genome medicine · 2019Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
A 4-year-old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, small hands, and camptodactyly. She had been diagnosed with possible Hallerman-Streiff syndrome. Her evaluation showed that she was mosaic for uniparental isodisomy of chromosome 1, which harbored a pathogenic c.1077dupT variant in ZMPSTE24 which predicts p.(Leu362fsX18). ZMPSTE24 is a zinc metalloproteinase that is involved in processing farnesylated proteins and pathogenic ZMPSTE24 variants cause accumulation of abnormal farnesylated forms of prelamin A. This, in turn, causes a spectrum of disease severity which is based on enzyme activity. The current patient has an intermediate form, which is a genocopy of severe Progeria.
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Registered trials
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