ArticleAmerican journal of human genetics2013
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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36 citing papers in PubMed, 97 citations in OpenAlex.
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- The squiggle tail (squig) mutation in mice is associated with a deletion in the mesenchyme homeobox 1 (Meox1) gene.BMC research notes · 2022Article
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- Rare association of Klippel-Feil syndrome with situs inversus totalis and review of the genetic background.BMJ case reports · 2021Review
- Characterising open chromatin in chick embryos identifies cis-regulatory elements important for paraxial mesoderm formation and axis extension.Nature communications · 2021Article
- Comparative proteomics analysis for identifying the lipid metabolism related pathways in patients with Klippel-Feil syndrome.Annals of translational medicine · 2021Article
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
- Atlas assimilation: spectrum of associated radiographic abnormalities, clinical presentation, and management in children below 10 years.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.BMC musculoskeletal disorders · 2020Article
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6 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Klippel-Feil syndrome (KFS) is a segmentation malformation of the cervical spine; clinically, it manifests as a short neck with reduced mobility and a low posterior hairline. Several genes have been proposed as candidates for KFS when it is present with other associated anomalies, but the genetics of isolated KFS have been difficult to study because of the syndrome's mostly sporadic occurrence. We describe a multiplex consanguineous family in which isolated KFS maps to a single 17q21.31 locus that harbors a homozygous frameshift deletion in MEOX1; this deletion results in complete instability of the transcript. Direct sequencing of this gene in two siblings from another consanguineous family affected by isolated KFS uncovered another homozygous truncating (nonsense) MEOX1 mutation that also leads to complete degradation of the transcript. This gene encodes a transcription factor with a well-established and nonredundant role in somite development, and homozygous null alleles of Meox1 in mice have a cervical skeletal defect that is remarkably similar to the one we observe in human individuals with MEOX1 mutations. Our data strongly suggest that KFS is the human phenotypic equivalent of the sclerotome polarity defect that results from Meox1 deficiency in mice.
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