ArticleAmerican journal of medical genetics. Part A2015
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
Article in American journal of medical genetics. Part A, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29 citing papers in PubMed, 56 citations in OpenAlex.
- Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.International journal of molecular sciences · 2026Article
- Reviewing the Genetic and Molecular Foundations of Congenital Spinal Deformities: Implications for Classification and Diagnosis.Journal of clinical medicine · 2025Review
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- Incomplete spinal cord injury following minor trauma in two siblings with spondylocostal dysostis type 6.Spine deformity · 2024Article
- Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.Orphanet journal of rare diseases · 2024Review
- Regulation of Notch1 Signalling by Long Non-Coding RNAs in Cancers and Other Health Disorders.International journal of molecular sciences · 2023Review
- Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary.Journal of the Endocrine Society · 2022Article
- Notch signaling pathway: architecture, disease, and therapeutics.Signal transduction and targeted therapy · 2022Review
- Article
- Clan genomics: From OMIM phenotypic traits to genes and biology.American journal of medical genetics. Part A · 2021Article
- Rare association of Klippel-Feil syndrome with situs inversus totalis and review of the genetic background.BMJ case reports · 2021Review
- Rare cause of paraparesis in a young man: cervico-dorsal neurenteric cysts associated with Klippel-Feil syndrome.BMJ case reports · 2021Article
- Images in Spine: A Rare Abnormal Bony Fusion.Cureus · 2021Article
- Comparative proteomics analysis for identifying the lipid metabolism related pathways in patients with Klippel-Feil syndrome.Annals of translational medicine · 2021Article
- Mutational burden and potential oligogenic model of TBX6-mediated genes in congenital scoliosis.Molecular genetics & genomic medicine · 2020Article
- KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.American journal of medical genetics. Part A · 2020Article
- IncreasedJournal of medical genetics · 2020Article
- The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.BMC musculoskeletal disorders · 2020Article
- TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.Human mutation · 2020Article
- DNA methylation changes in infants between 6 and 52 weeks.Scientific reports · 2019Article
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Authors and funding
15 authors at 5 institutions in 2 countries.
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Abstract
Klippel-Feil syndrome is a rare disorder represented by a subgroup of segmentation defects of the vertebrae and characterized by fusion of the cervical vertebrae, low posterior hairline, and short neck with limited motion. Both autosomal dominant and recessive inheritance patterns were reported in families with Klippel-Feil. Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel-Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways. Heterotaxy arises from defects in proteins that function in the development of left-right asymmetry of the developing embryo. We describe a consanguineous family with a male proband who presents with classical Klippel-Feil syndrome together with heterotaxy (situs inversus totalis). The present patient also had Sprengel's deformity, deformity of the sternum, and a solitary kidney. Using exome sequencing, we identified a homozygous frameshift mutation (c.299delT; p.L100fs) in RIPPLY2, a gene shown to play a crucial role in somitogenesis and participate in the Notch signaling pathway via negatively regulating Tbx6. Our data confirm RIPPLY2 as a novel gene for autosomal recessive Klippel-Feil syndrome, and in addition-from a mechanistic standpoint-suggest the possibility that mutations in RIPPLY2 could also lead to heterotaxy. © 2015 Wiley Periodicals, Inc.
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