Journal of human genetics · 2024
Biallelic missense CEP55 variants cause prenatal MARCH syndrome.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Fu Li, Yamamoto Yuka, Seyama Rie, Matsuzawa Nana, Nagaoka Mariko, Yao Takashi, Hamada Keisuke, Ogata Kazuhiro, Suzuki Toshifumi, Tsuchida Naomi, Uchiyama Yuri, Koshimizu Eriko, Misawa Kazuharu, Miyatake Satoko, Mizuguchi Takeshi, Fujita Atsushi, Itakura Atsuo, Matsumoto Naomichi
Аннотация
CEP55 encodes centrosomal protein 55 kDa, which plays a crucial role in mitosis, particularly cytokinesis. Biallelic CEP55 variants cause MARCH syndrome (multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly). Here, we describe a Japanese family with two affected siblings harboring novel compound heterozygous CEP55 variants, NM_001127182: c.[1357 C > T];[1358 G > A] p.[(Arg453Cys)];[(Arg453His)]. Both presented clinically with typical lethal MARCH syndrome. Although a combination of missense and nonsense variants has been reported previously, this is the first report of biallelic missense CEP55 variants. These variants biallelically affected the same amino acid, Arg453, in the last 40 amino acids of CEP55. These residues are functionally important for CEP55 localization to the midbody during cell division, and may be associated with severe clinical outcomes. More cases of pathogenic CEP55 variants are needed to establish the genotype-phenotype correlation.