*CCDC103 *mutations were first reported in 2012, in patients with dynein arm loss and a typical PCD clinical phenotype (PMID: 22581229). CCDC103 is an oligomeric outer dynein arm assembly factor that is tightly integrated within the ciliary axoneme (PMID: 25572396). Also, CCDC103 binds purified microtubules and, thus, participates in microtubule stabilization that facilitates dynein arm attachment and ciliary motility (PMID: 25572396).
Five (missense and frameshift) variants that have been reported in four publications (PMIDs: 22581229, 25877373, 31273583 and 28790179) are included in this curation. The mechanism of pathogenicity appears to be biallelic loss of function. The variant c.31G>C (p.Ala11Pro) was detected in heterozygous state in one proband (PMID: 22581229). Therefore, we didn't give it any points for this gene-disease relationship. The CCDC103 p.His154Pro substitution is relatively common in the South Asian community and causes PCD that can be difficult to diagnose using pathology-based clinical tests (PMID: 28790179).
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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