ReviewJournal of human genetics2026
Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review.
Review in Journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
The syndrome known as KIDAR (keratitis, ichthyosis, deafness, autosomal recessive) is extremely rare. It is caused by biallelic mutations in AP1B1, encoding adaptor-related protein complex, beta-1 subunit. AP1 complex takes part in the formation of vesicles and the selection of cargo proteins in the trans-golgi network. It also contributes to vesicular transport of ATP7A and ATP7B. Accordingly, KIDAR has been defined as both an adaptinopathy and a copper metabolism disorder. Eleven cases have been reported to date. We report two new KIDAR cases with novel splice site variants-c.1796+1 G > T and c.1796+1 G > C-in AP1B1 (NM_001127.4) gene. Functional analysis of the first variant revealed that this mutation disrupts the normal splicing process, resulting in the creation of a cryptic donor site 150 base pairs downstream of the canonical donor site which introduces a premature stop codon into the transcript. We also present a review of previously reported KIDAR cases and genetic disorders involving altering copper metabolism and highlight our patients' new clinical features, which may broaden the recognized phenotype. A detailed study of these cases may contribute to the ongoing genetic and clinical characterization of KIDAR syndrome.
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