CDCA7 was first reported in relation to autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome 3 in 2015 (Thijssen et al., PMID: 26216346). This condition is characterized by recurrent infection, dysmorphic facial features, developmental delay and hypomethylation of certain chromosomal regions. The phenotypic presentation varied among patients reported. Five missense variants that have been reported in five probands in two publications (PMIDs: 26216346, 33726816) are included in this curation. Variants segregated with disease in one family. Heterozygous parents were unaffected. The mechanism of pathogenicity unknown. All reported mutations are located in the the conserved C-terminal zinc finger domain. This gene-disease association is also supported by protein interactions, biochemical function, functional alteration in patient and non-patient cells, and non-human model organism (PMID: 29339483, 30307408, 26216346, 25385755). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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