ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. 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 16 papers.
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Who cites it
16 citing papers in PubMed, 28 citations in OpenAlex.
- Smad3 deficiency attenuates disease severity in a zebrafish model for Smad6-related aortic disease.Angiogenesis · 2026Article
- Suspected association of a novelTranslational pediatrics · 2026Article
- RecessiveDiagnostics (Basel, Switzerland) · 2025Article
- HomozygousJournal of medical genetics · 2024Article
- Clinical interest of molecular study in cases of isolated midline craniosynostosis.European journal of human genetics : EJHG · 2023Article
- Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.Journal of clinical immunology · 2023Article
- Congenital Proximal Radioulnar Synostosis in an Elite Athlete-Case Report.Medicina (Kaunas, Lithuania) · 2023Article
- SMAD6-deficiency in human genetic disorders.NPJ genomic medicine · 2022Review
- Traumatic elbow dislocation in a patient with congenital radioulnar synostosis.Shoulder & elbow · 2022Article
- Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum.Human genetics · 2022Article
- MutantFrontiers in genetics · 2022Article
- A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.Molecular genetics & genomic medicine · 2022Article
- Further phenotypic features and two novelMolecular medicine reports · 2021Article
- Co-Occurring HeterozygousGenes · 2021Article
- Disorder of Sexual Development Males With XYY in Blood Have Exactly X/XY/XYY Mosaicism in Gonad Tissues.Frontiers in genetics · 2021Article
- Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.BMC medical genetics · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeRadioulnar synostosis (RUS) can be syndromic or nonsyndromic. The genetic basis for several RUS syndromes have been reported. However, the genetic cause of nonsyndromic RUS (nsRUS) remains unknown.
methodsWe performed Giemsa (GTG) banding, Sanger sequencing, and exome sequencing on patients (n = 140) and families (n = 11) who suffered from RUS.
resultsGTG banding identified 10% RUS sporadic cases affected by sex chromosome aneuploidy. Sanger sequencing on candidate genes revealed noggin (NOG) rarely mutated in nsRUS. Exome sequencing identified 16 loss-of-function (LOF) and 6 missense variants (minor allele frequency [MAF] < 0.0001) in 22/117 nsRUS sporadic patients. Genetic association analysis found a significant association between SMAD6-LOF variants and nsRUS risk (odds ratio [OR] = 430, 95% confidence interval [CI]: 238-780, P < 0.000001). SMAD6 mutated in nsRUS was further confirmed by direct Sanger sequencing of SMAD6-coding regions on other unrelated cohorts of nsRUS cases or families. In summary, we detected 27 SMAD6 rare variants in nsRUS, most of which were LOF variants, 4 were de novo, and 3 were transmitted in families with autosomal dominant inheritance.
conclusionAs an intracellular bone morphogenetic protein (BMP) antagonist gene, SMAD6 is frequently mutated in nsRUS. NOG, which encodes an extracellular BMP antagonist, is rarely mutated in nsRUS. This work is the first genetic study on nsRUS.
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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.