Evidence map›Paper›PMID 39414989›Full record

ArticleJournal of human genetics2025

Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

Li Fu, Yuka Yamamoto, Rie Seyama, Nana Matsuzawa, Mariko Nagaoka, Takashi Yao, Keisuke Hamada, Kazuhiro Ogata, Toshifumi Suzuki, Naomi Tsuchida and 8 more

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In one paragraph

Article in Journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors.

Li FuDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Yuka YamamotoDepartment of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.
Rie SeyamaDepartment of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.
Nana MatsuzawaDepartment of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.
Mariko NagaokaDepartment of Human Pathology, Juntendo University Faculty of Medicine, Tokyo, Japan.
Takashi YaoDepartment of Human Pathology, Juntendo University Faculty of Medicine, Tokyo, Japan.
Keisuke HamadaDepartment of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Kazuhiro OgataDepartment of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Toshifumi SuzukiDepartment of Obstetrics and Gynecology, Keiai Hospital, Saitama, Japan.ORCID http://orcid.org/0000-0003-0515-0481
Naomi TsuchidaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.ORCID http://orcid.org/0000-0001-7203-884X
Yuri UchiyamaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.ORCID http://orcid.org/0000-0002-4540-5277
Eriko KoshimizuDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.ORCID http://orcid.org/0000-0001-9947-3315
Kazuharu MisawaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.ORCID http://orcid.org/0000-0002-6277-4330
Satoko MiyatakeDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.ORCID http://orcid.org/0000-0001-7587-5168
Takeshi MizuguchiDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.ORCID http://orcid.org/0000-0003-4998-1244
Atsushi FujitaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.ORCID http://orcid.org/0000-0003-1572-1014
Atsuo ItakuraDepartment of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. naomat@yokohama-cu.ac.jp.ORCID http://orcid.org/0000-0001-9846-6500

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Cell Cycle ProteinsMutation, MissenseAbnormalities, MultipleAllelesCerebellumDevelopmental DisabilitiesFemaleGenetic Association StudiesHumansMaleNervous System MalformationsNuclear ProteinsPedigreeCell Cycle ProteinsCep55 protein, humanNuclear Proteins

Identifiers

PMID39414989

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.