ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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40 citing papers in PubMed, 67 citations in OpenAlex.
- Gene-based burden testing implicates four novel susceptibility genes associated with isolated short stature in pediatric patients.World journal of pediatrics : WJP · 2026Article
- Linking shox/shox2 deficiency with fgfr3 gain-of-function and natriuretic peptides.Frontiers in endocrinology · 2026Article
- Cellular and genetic mechanisms that shape the development and evolution of tail vertebral proportion in mice and jerboas.Nature communications · 2025Article
- The genetic basis of human height.Nature reviews. Genetics · 2025Review
- Identification of NPR2 gene mutations affecting chondrocyte differentiation in short stature through JAK2-STAT5.Orphanet journal of rare diseases · 2025Article
- Idiopathic Short Stature in the Genomic Era: Integrating Auxology, Endocrinology, and Emerging Genetic Insights.Children (Basel, Switzerland) · 2025Review
- Mining of candidate genes related to body size in Chinese native pig breeds based on public data.Scientific reports · 2025Article
- OvineArchives animal breeding · 2025Article
- Genome-wide Mendelian randomization identifies drugs associated with body height.Translational pediatrics · 2024Article
- Deficiencies in corin and atrial natriuretic peptide-mediated signaling impair endochondral ossification in bone development.Communications 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
- Clinical and genetic evaluation of children with short stature of unknown origin.BMC medical genomics · 2023Article
- Pharmacological and Genetic Disruption of C-Type Natriuretic Peptide (International journal of molecular sciences · 2023Article
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- A State of Natriuretic Peptide Deficiency.Endocrine reviews · 2023Article
- Genome-wide association study of early liveweight traits in fat-tailed Akkaraman lambs.PloS one · 2023Article
- Article
- Physiological and Pathophysiological Effects of C-Type Natriuretic Peptide on the Heart.Biology · 2022Review
- Editorial: Novel Insights Into the Genetics of Growth Disorders.Frontiers in genetics · 2022Article
- New gene discoveries in skeletal diseases with short stature.Endocrine connections · 2021Review
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Authors and funding
14 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeC-type natriuretic peptide (CNP) and its principal receptor, natriuretic peptide receptor B (NPR-B), have been shown to be important in skeletal development. CNP and NPR-B are encoded by natriuretic peptide precursor-C (NPPC) and natriuretic peptide receptor 2 (NPR2) genes, respectively. While NPR2 mutations have been described in patients with skeletal dysplasias and idiopathic short stature (ISS), and several Npr2 and Nppc skeletal dysplasia mouse models exist, no mutations in NPPC have been described in patients to date.MethodsNPPC was screened in 668 patients (357 with disproportionate short stature and 311 with autosomal dominant ISS) and 29 additional ISS families in an ongoing whole-exome sequencing study.ResultsTwo heterozygous NPPC mutations, located in the highly conserved CNP ring, were identified. Both showed significant reductions in cyclic guanosine monophosphate synthesis, confirming their pathogenicity. Interestingly, one has been previously linked to skeletal abnormalities in the spontaneous Nppc mouse long-bone abnormality (lbab) mutant.ConclusionsOur results demonstrate, for the first time, that NPPC mutations cause autosomal dominant short stature in humans. The NPPC mutations cosegregated with a short stature and small hands phenotype. A CNP analog, which is currently in clinical trials for the treatment of achondroplasia, seems a promising therapeutic approach, since it directly replaces the defective protein.
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