Genetic and functional insights into CDA-I prevalence and pathogenesis.

doi:10.1136/jmedgenet-2020-106880

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Article

Genetic and functional insights into CDA-I prevalence and pathogenesis.

Journal of medical genetics - 1 Mar 2021

Olijnik Aude-Anais, Roy Noémi B A, Scott Caroline, Marsh Joseph A, Brown Jill, Lauschke Karin, Ask Katrine, Roberts Nigel, Downes Damien J, Brolih Sanja, Johnson Errin, Xella Barbara, Proven Melanie, Hipkiss Ria, Ryan Kate, Frisk Per, Mäkk Johan, Stattin Eva-Lena Maria, Sadasivam Nandini, McIlwaine Louisa, Hill Quentin A, Renella Raffaele, Hughes Jim R, Gibbons Richard J, Groth Anja, McHugh Peter J, Higgs Douglas R, Buckle Veronica J, Babbs Christian

Abstract excerpt

BACKGROUND: Congenital dyserythropoietic anaemia type I (CDA-I) is a hereditary anaemia caused by biallelic mutations in the widely expressed genes CDAN1 and C15orf41. Little is understood about either protein and it is unclear in which cellular pathways they participate. METHODS: Genetic analysis of a cohort of patients with CDA-I identifies novel pathogenic variants in both known causative genes. We analyse the...

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Identifiers

PMID: 32518175
DOI: 10.1136/jmedgenet-2020-106880
PMCID: PMC7613268

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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