Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1

Inborn errors in copper metabolism result in a diverse set of abnormalities such as Wilson disease and MEDNIK syndrome. Homozygous pathogenic variants in AP1B1 lead to KIDAR (Keratitis-Ichthyosis-Deafness Syndrome). The main phenotypic features of KIDAR are ichthyosis, keratitis, erythroderma, and p...

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Published in:European journal of medical genetics 2022-03, Vol.65 (3), p.104449-104449, Article 104449
Main Authors: Faghihi, Fatemeh, Khamirani, Hossein Jafari, Zoghi, Sina, Kamal, Neda, Yeganeh, Babak Shirazi, Dianatpour, Mehdi, Bagher Tabei, Seyed Mohammad, Dastgheib, Seyed Alireza
Format: Article
Language:English
Subjects:
AP1B1
Autosomal recessive keratitis-ichthyosis-deafness syndrome
Copper metabolism
Developmental delay
KIDAR
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Summary:Inborn errors in copper metabolism result in a diverse set of abnormalities such as Wilson disease and MEDNIK syndrome. Homozygous pathogenic variants in AP1B1 lead to KIDAR (Keratitis-Ichthyosis-Deafness Syndrome). The main phenotypic features of KIDAR are ichthyosis, keratitis, erythroderma, and progressive hearing loss accompanied by developmental delay and failure to thrive. Herein, we describe a six-and-a-half-year-old boy with KIDAR caused by a novel pathogenic variant in AP1B1 (NM_001127.4:c.1263C > A, p.Tyr421*). The proband presented with ichthyosis, erythroderma, palmoplantar keratoderma, hearing loss, and corneal scarring. He also had hypotonia, global developmental delay, and photophobia. Lastly, we review all of the previously reported cases and the clinical features associated with KIDAR.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2022.104449