Department of Biology, Central Tehran Branch, Islamic Azad University, Tehran, Iran.
Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Eur J Med Genet. 2022 Mar;65(3):104449. doi: 10.1016/j.ejmg.2022.104449. Epub 2022 Feb 7.
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.
先天性铜代谢紊乱会导致多种异常，如威尔逊病和 MEDNIK 综合征。AP1B1 中的纯合致病性变异会导致 KIDAR（角膜炎-鱼鳞病-耳聋综合征）。KIDAR 的主要表型特征为鱼鳞病、角膜炎、红皮病和进行性听力损失，伴有发育迟缓、生长不良。在此，我们描述了一名 6 岁半的男孩，他患有由 AP1B1 中的新型致病性变异（NM_001127.4：c.1263C > A，p.Tyr421*）引起的 KIDAR。该先证者表现为鱼鳞病、红皮病、掌跖角化过度症、听力损失和角膜瘢痕。他还有低张力、全面发育迟缓、畏光。最后，我们回顾了所有先前报道的病例以及与 KIDAR 相关的临床特征。
