ArticleClinical genetics2017
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.
Article in Clinical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 27 citations in OpenAlex.
- Ciliary-Mediated Mechanotransduction in Skeletal Development and Diseases.Results and problems in cell differentiation · 2026Review
- Case Report: Short rib-thoracic dysplasia type 3 presenting with predominant respiratory manifestations.Frontiers in pediatrics · 2026Article
- A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.Hereditas · 2025Article
- Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants ofFrontiers in genetics · 2023Article
- Article
- Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis.BMC medical genomics · 2022Article
- Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.Molecular genetics & genomic medicine · 2020Article
- A system-based approach to the genetic etiologies of non-immune hydrops fetalis.Prenatal diagnosis · 2019Review
- Identification of biomarkers in macrophages of atherosclerosis by microarray analysis.Lipids in health and disease · 2019Article
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.Circulation · 2018Review
- Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.Human mutation · 2018Article
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9 authors at 5 institutions in 2 countries.
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Abstract
The short-rib polydactyly syndromes (SRPS) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. SRPS phenotypes were historically categorized as types I-IV, with type I first delineated by Saldino and Noonan in 1972. Characteristic findings among all forms of SRP include short horizontal ribs, short limbs and polydactyly. The SRP type I phenotype is characterized by a very small thorax, extreme micromelia, very short, poorly mineralized long bones, and multiple organ system anomalies. To date, the molecular basis of this most severe type of SRP, also known as Saldino-Noonan syndrome, has not been determined. We identified three SRP cases that fit the original phenotypic description of SRP type I. In all three cases, exome sequence analysis revealed compound heterozygosity for mutations in DYNC2H1, which encodes the main component of the retrograde IFT A motor, cytoplasmic dynein 2 heavy chain 1. Thus SRP type I, II, III and asphyxiating thoracic dystrophy (ATD), which also result from DYNC2H1 mutations. Herein we describe the phenotypic features, radiographic findings, and molecular basis of SRP type I.
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