Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
27 Sep 2024
27 Sep 2024
Historique:
received:
26
04
2024
accepted:
19
09
2024
revised:
20
08
2024
medline:
28
9
2024
pubmed:
28
9
2024
entrez:
27
9
2024
Statut:
aheadofprint
Résumé
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).
Identifiants
pubmed: 39333427
doi: 10.1038/s41431-024-01698-5
pii: 10.1038/s41431-024-01698-5
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s), under exclusive licence to European Society of Human Genetics.
Références
Beleza-Meireles A, Clayton-Smith J, Saraiva JM, Tassabehji M. Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update. J Med Genet. 2014;51:635–45.
doi: 10.1136/jmedgenet-2014-102476
pubmed: 25118188
Tingaud-Sequeira A, Trimouille A, Sagardoy T, Lacombe D, Rooryck C. Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease. J Med Genet. 2022;59:417–27.
doi: 10.1136/jmedgenet-2021-108219
pubmed: 35110414
Mastroiacovo P, Corchia C, Botto LD, Lanni R, Zampino G, Fusco D. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J Med Genet. 1995;32:453–7.
doi: 10.1136/jmg.32.6.453
pubmed: 7666397
pmcid: 1050485
Barisic I, Odak L, Loane M, Garne E, Wellesley D, Calzolari E, et al. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. Eur J Hum Genet EJHG. 2014;22:1026–33.
doi: 10.1038/ejhg.2013.287
pubmed: 24398798
Thomas MA, Bedard T, Crawford S, Grevers X, Lowry RB. Craniofacial microsomia, associated congenital anomalies, and risk factors in 63 cases from the Alberta congenital anomalies surveillance system. J Pediatr. 2023;261:113528.
doi: 10.1016/j.jpeds.2023.113528
pubmed: 37268037
Adam AP, Curry CJ, Hall JG, Keppler-Noreuil KM, Adam MP, Dobyns WB. Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis. Am J Med Genet A. 2020;182:2646–61.
doi: 10.1002/ajmg.a.61847
pubmed: 32924308
Ranza E, Le Gouez M, Guimier A, Dunlop NK, Beaudoin S, Malan V, et al. Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia. Am J Med Genet A janv. 2023;191:77–83.
doi: 10.1002/ajmg.a.62989
Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, et al. OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum. J Med Genet. 2023;60:620–6.
doi: 10.1136/jmg-2022-108678
pubmed: 36368868
Timberlake AT, Griffin C, Heike CL, Hing AV, Cunningham ML, Chitayat D, et al. Haploinsufficiency of SF3B2 causes craniofacial microsomia. Nat Commun. 2021;12:4680.
doi: 10.1038/s41467-021-24852-9
pubmed: 34344887
pmcid: 8333351
Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, et al. FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nat Commun. 2023;14:2026.
doi: 10.1038/s41467-023-37703-6
pubmed: 37041148
pmcid: 10090152
Quiat D, Timberlake AT, Curran JJ, Cunningham ML, McDonough B, Artunduaga MA, et al. Damaging variants in FOXI3 cause microtia and craniofacial microsomia. Genet Med J Am Coll Med Genet 2023;25:143–50.
Hennekam RC, Krantz ID, Allanson JE, Gorlin RJ Syndromes of the head and neck. 5. ed. Oxford: Oxford Univ. Press; 2010. 1452 p. (Oxford monographs on medical genetics).
Risheg H, Pasion R, Sacharow S, Proud V, Immken L, Schwartz S, et al. Clinical comparison of overlapping deletions of 19p13.3. Am J Med Genet A 2013;161A:1110–6.
doi: 10.1002/ajmg.a.35923
pubmed: 23610052
Volk A, Crispino JD. The role of the chromatin assembly complex (CAF-1) and its p60 subunit (CHAF1b) in homeostasis and disease. Biochim Biophys Acta 2015;1849:979–86.
doi: 10.1016/j.bbagrm.2015.05.009
pubmed: 26066981
pmcid: 4515380
Liu CP, Yu Z, Xiong J, Hu J, Song A, Ding D, et al. Structural insights into histone binding and nucleosome assembly by chromatin assembly factor-1. Science. 2023;381:eadd8673.
doi: 10.1126/science.add8673
pubmed: 37616371
pmcid: 11186048
Nakano S, Stillman B, Horvitz HR. Replication-coupled chromatin assembly generates a neuronal bilateral asymmetry in C. elegans. Cell. 2011;147:1525–36.
doi: 10.1016/j.cell.2011.11.053
pubmed: 22177093
pmcid: 3290763
Gopinathan NA, Rabas N, Lejon S, Homiski C, Osborne MJ, Cyr N, et al. Unorthodox PCNa binding by chromatin assembly factor 1. Int J Mol Sci. 2022;23:11099.
doi: 10.3390/ijms231911099
Houlard M, Berlivet S, Probst AV, Quivy JP, Héry P, Almouzni G, et al. CAF-1 is essential for heterochromatin organization in pluripotent embryonic cells. PLoS Genet. 2006;2:e181.
doi: 10.1371/journal.pgen.0020181
pubmed: 17083276
pmcid: 1630711
Kaufman PD, Kobayashi R, Stillman B. Ultraviolet radiation sensitivity and reduction of telomeric silencing in Saccharomyces cerevisiae cells lacking chromatin assembly factor-I. Genes Dev. 1997;11:345–57.
doi: 10.1101/gad.11.3.345
pubmed: 9030687