ArticleEuropean journal of human genetics : EJHG2025
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.
Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.Human genetics · 2026Article
- Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.Human molecular genetics · 2026Article
- CHAF1A Promotes Preadipocyte Differentiation and Contributes to Macrosomia in Gestational Diabetes Mellitus.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
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Authors and funding
18 authors.
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Abstract
Oculo-auriculo-vertebral spectrum (OAVS) is characterized by abnormal development of the 1st and 2nd branchial arches. Despite arguments against a monogenic condition, a few genes have been involved in a minority of cases. We now report heterozygous, presumably loss-of function variants in the CHAF1A gene in 8 individuals, including 3 members of the same family. Four cases fulfill stringent diagnostic criteria for OAVS, including asymmetric ear dysplasia, preauricular tags, mandibular asymmetry +/- vertebral malformations. Two patients also presented with kidney malformations. CHAF1A encodes a subunit of CAF-1 (chromatin assembly factor-1), a heterotrimeric protein complex responsible for the deposition of newly synthesized histones H3-H4 onto the newly synthetized DNA strand during replication. The identification of loss-of-unction variants in CHAF1A is consistent with the hypothesis of early developmental genes dysregulation driving OAVS and other associations recently lumped under the acronym Recurrent Constellations of Embryonic Malformations (RCEM).
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