ArticleAmerican journal of human genetics2012
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 110 citations in OpenAlex.
- A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.Human genetics · 2020Trial
- Multimodal single cell analysis reveals a link between flowering and leaf initiation.bioRxiv : the preprint server for biology · 2026Article
- Genetic Causes of Thoracic Aortic Aneurysm: A Review.Methodist DeBakey cardiovascular journal · 2026Review
- Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.Journal of medical genetics · 2025Article
- Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China.Frontiers in genetics · 2025Article
- Decoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicity.Frontiers in cell and developmental biology · 2025Review
- Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.Molecular genetics & genomic medicine · 2024Article
- Pectus excavatum and carinatum: a narrative review of epidemiology, etiopathogenesis, clinical features, and classification.Journal of thoracic disease · 2024Review
- Hereditary Thoracic Aortic Diseases.Diagnostics (Basel, Switzerland) · 2024Review
- Context-dependent TGFβ family signalling in cell fate regulation.Nature reviews. Molecular cell biology · 2023Review
- Frail Silk: Is the Hughes-Stovin Syndrome a Behçet Syndrome Subtype with Aneurysm-Involved Gene Variants?International journal of molecular sciences · 2023Review
- Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method.Journal of medical genetics · 2022Article
- 1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review.Journal of cardiovascular development and disease · 2021Article
- Toward precision medicine in vascular connective tissue disorders.American journal of medical genetics. Part A · 2021Review
- Deciphering the Pathogenic Nature of Two de novo Sequence Variations in a Patient with Shprintzen-Goldberg Syndrome.Molecular syndromology · 2021Article
- Review
- Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.Scientific reports · 2021Article
- Article
- Potential Molecular Pathways Related to Pulmonary Artery Aneurysm Development: Lessons to Learn from the Aorta.International journal of molecular sciences · 2020Review
- Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review.Case reports in genetics · 2020Article
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Authors and funding
38 authors at 16 institutions in 7 countries.
Funding
Abstract
Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a dominantly inherited heterozygous in-frame deletion in exon 1 of SKI. Direct sequencing of SKI further identified one overlapping heterozygous in-frame deletion and ten heterozygous missense mutations affecting recurrent residues in 18 of the 19 individuals screened for SGS; these individuals included one family affected by somatic mosaicism. All mutations were located in a restricted area of exon 1, within the R-SMAD binding domain of SKI. No mutation was found in a cohort of 11 individuals with other marfanoid-craniosynostosis phenotypes. The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-β signaling, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS. These findings define SGS as a member of the family of diseases associated with the TGF-β-signaling pathway.
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