ArticleHuman mutation2015
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 98 citations in OpenAlex.
- International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood.Endocrine reviews · 2023Guideline
- C-type natriuretic peptide as mediator of growth in the absence of growth hormone: Unraveling the mystery of the growth without GH syndrome.Hormones (Athens, Greece) · 2026Review
- Gene-based burden testing implicates four novel susceptibility genes associated with isolated short stature in pediatric patients.World journal of pediatrics : WJP · 2026Article
- Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature.American journal of human genetics · 2026Article
- Article
- Familial short stature: genetic architecture, risk stratification, and precision management.Frontiers in endocrinology · 2026Review
- Specificity, length, and luck: How genes are prioritized by rare and common variant association studies.bioRxiv : the preprint server for biology · 2024Article
- Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.European journal of human genetics : EJHG · 2024Article
- Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age.Journal of clinical medicine · 2023Article
- Analysis of children with familial short stature: who should be indicated for genetic testing?Endocrine connections · 2023Article
- Clinical and genetic evaluation of children with short stature of unknown origin.BMC medical genomics · 2023Article
- Identification of novel genes includingFrontiers in endocrinology · 2023Article
- HeterozygousGenes · 2022Article
- Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.Journal of the Endocrine Society · 2022Article
- Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.Nature genetics · 2022Article
- Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches.Annals of pediatric endocrinology & metabolism · 2021Article
- Prevention of guanylyl cyclase-B dephosphorylation rescues achondroplastic dwarfism.JCI insight · 2021Article
- Identifying therapeutic drug targets using bidirectional effect genes.Nature communications · 2021Article
- De novo c.2455C>T mutation of NPR2 gene in a fetus with shortened long bones and a ventricular septal defect conceived by a mother with a fragile site at 16q22.1 and a father with a rare heterochromatic variant of chromosome 4 from Vietnam.Molecular genetics & genomic medicine · 2021Article
- Growth failure: 'idiopathic' only after a detailed diagnostic evaluation.Endocrine connections · 2021Review
Corrections and comments
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Authors and funding
13 authors at 8 institutions in 3 countries.
Funding
Abstract
Based on the observation of reduced stature in relatives of patients with acromesomelic dysplasia, Maroteaux type (AMDM), caused by homozygous or compound heterozygous mutations in natriuretic peptide receptor-B gene (NPR2), it has been suggested that heterozygous mutations in this gene could be responsible for the growth impairment observed in some cases of idiopathic short stature (ISS). We enrolled 192 unrelated patients with short stature and 192 controls of normal height and identified seven heterozygous NPR2 missense or splice site mutations all in the short stature patients, including one de novo splice site variant. Three of the six inherited variants segregated with short stature in the family. Nine additional rare nonsynonymous NPR2 variants were found in three additional cohorts. Functional studies identified eight loss-of-function mutations in short individuals and one gain-of-function mutation in tall individuals. With these data, we were able to rigorously verify that NPR2 functional haploinsufficiency contributes to short stature. We estimate a prevalence of NPR2 haploinsufficiency of between 0 and 1/26 in people with ISS. We suggest that NPR2 gain of function may be a more common cause of tall stature than previously recognized.
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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.