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Article

Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

Journal of human genetics - 1 Jan 2025

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

Abstract excerpt

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]...

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PMID: 39414989
DOI: 10.1038/s10038-024-01298-7

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