ArticleThe Journal of clinical endocrinology and metabolism2014
Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.
Article in The Journal of clinical endocrinology and metabolism, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 76 citations in OpenAlex.
- Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature.American journal of human genetics · 2026Article
- Article
- Identification of NPR2 gene mutations affecting chondrocyte differentiation in short stature through JAK2-STAT5.Orphanet journal of rare diseases · 2025Article
- Identification and functional analysis of NPR2 truncating mutations in two Chinese families with short stature.BMC pediatrics · 2025Article
- Specificity, length, and luck: How genes are prioritized by rare and common variant association studies.bioRxiv : the preprint server for biology · 2024Article
- The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.Journal of biomedical science · 2024Review
- Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.Molecular genetics & genomic medicine · 2024Review
- Monogenic causes of familial short stature.Frontiers in endocrinology · 2024Review
- 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
- Pharmacological and Genetic Disruption of C-Type Natriuretic Peptide (International journal of molecular sciences · 2023Article
- Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature.Frontiers in cell and developmental biology · 2023Article
- C-type Natriuretic Peptide-induced PKA Activation Promotes Endochondral Bone Formation in Hypertrophic Chondrocytes.Endocrinology · 2022Article
- New gene discoveries in skeletal diseases with short stature.Endocrine connections · 2021Review
- Natriuretic Peptide Expression and Function in GH3 Somatolactotropes and Feline Somatotrope Pituitary Tumours.International journal of molecular sciences · 2021Article
- Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.The Journal of clinical endocrinology and metabolism · 2020Observational
- Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations.Molecular genetics & genomic medicine · 2020Article
- Is C-type natriuretic peptide regulated by a feedback loop? A study on systemic and local autoregulatory effect.PloS one · 2020Article
- A novelClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2020Article
- Exogenous C-type natriuretic peptide therapy for impaired skeletal growth in a murine model of glucocorticoid treatment.Scientific reports · 2019Article
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextC-type natriuretic peptide-natriuretic peptide receptor B (NPR-B) signaling is critical for endochondral ossification, which is responsible for longitudinal growth in limbs and vertebrae. Biallelic NPR2 mutations cause acromesomelic dysplasia, type Maroteaux, which is bone dysplasia characterized by severe short stature and short limbs. A monoallelic NPR2 mutation has been suggested to mildly impair long bone growth.
objectiveThe goal of this study was to identify and characterize NPR2 mutations among Japanese patients with short stature. SUBJECTS AND
methodsWe enrolled 101 unrelated Japanese patients with short stature. NPR2 and NPPC were sequenced, and the identified variants were characterized in vitro.
resultsIn two subjects, we identified two novel heterozygous NPR2 mutations (R110C and Q417E) causing a loss of C-type natriuretic peptide-dependent cGMP generation capacities and having dominant-negative effects. R110C was defective in trafficking from the endoplasmic reticulum to the Golgi apparatus. In contrast, Q417E showed clear cell surface expression.
conclusionsWe identified heterozygous NPR2 mutations in 2% of Japanese patients with short stature. Our in vitro findings indicate that NPR2 mutations have a dominant negative effect, and their dominant-negative mechanisms vary corresponding to the molecular pathogenesis of the mutations.
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