{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T03:00:03Z","timestamp":1790046003225,"version":"4.0.1"},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,25]],"date-time":"2020-02-25T00:00:00Z","timestamp":1582588800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Homozygosity for nonsense variants in <jats:italic>CEP55<\/jats:italic> has been associated with a lethal condition characterized by multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH syndrome) also known as Meckel\u2010like syndrome. Missense variants in <jats:italic>CEP55<\/jats:italic> have not previously been reported in association with disease. Here we describe seven living individuals from five families with biallelic <jats:italic>CEP55<\/jats:italic> variants. Four unrelated individuals with microcephaly, speech delays, and bilateral toe syndactyly all have a common <jats:italic>CEP55<\/jats:italic> variant c.70G&gt;A p.(Glu24Lys) in <jats:italic>trans<\/jats:italic> with nonsense variants. Three siblings are homozygous for a consensus splice site variant near the end of the gene. These affected girls all have severely delayed development, microcephaly, and varying degrees of lissencephaly\/pachygyria. Here we compare our seven patients with three previously reported families with a prenatal lethal phenotype (MARCH syndrome\/Meckel\u2010like syndrome) due to homozygous <jats:italic>CEP55<\/jats:italic> nonsense variants. Our series suggests that individuals with compound heterozygosity for nonsense and missense variants in <jats:italic>CEP55<\/jats:italic> have a different viable phenotype. We show that homozygosity for a splice variant near the end of the <jats:italic>CEP55<\/jats:italic> gene is also compatible with life.<\/jats:p>","DOI":"10.1002\/ajmg.a.61512","type":"journal-article","created":{"date-parts":[[2020,2,26]],"date-time":"2020-02-26T04:35:06Z","timestamp":1582691706000},"page":"1201-1208","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Expanding the spectrum of <i>CEP55<\/i>\u2010associated disease to viable phenotypes"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1146-5001","authenticated-orcid":false,"given":"Elizabeth S.","family":"Barrie","sequence":"first","affiliation":[{"name":"The Institute for Genomic Medicine, Nationwide Children's Hospital  Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eline","family":"Overwater","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mieke M.","family":"van Haelst","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Mahdi","family":"Motazacker","sequence":"additional","affiliation":[{"name":"Laboratory of Genome Diagnostics, Amsterdam UMC, University of Amsterdam  Amsterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen V.","family":"Truxal","sequence":"additional","affiliation":[{"name":"Division of Genetic and Genomic Medicine Nationwide Children's Hospital  Columbus Ohio"},{"name":"Department of Pediatrics The Ohio State University College of Medicine  Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Crist","sequence":"additional","affiliation":[{"name":"The Institute for Genomic Medicine, Nationwide Children's Hospital  Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roya","family":"Mostafavi","sequence":"additional","affiliation":[{"name":"Department of Oncology St. Jude Children's Research Hospital  Memphis Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eniko K.","family":"Pivnick","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Ophthalmology University of Tennessee Health Science Center  Memphis Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asim F.","family":"Choudhri","sequence":"additional","affiliation":[{"name":"Department of Radiology, Ophthalmology, and Neurosurgery University of Tennessee Health Science Center  Memphis Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TaraChandra","family":"Narumanchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics West Virginia University  Morgantown West Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0020-5175","authenticated-orcid":false,"given":"Valerie","family":"Castelluccio","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine  Indianapolis Indiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence E.","family":"Walsh","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical and Molecular Genetics, and Pediatrics Indiana University School of Medicine  Indianapolis Indiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"Garganta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Metabolism University of Florida  Gainesville Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie M.","family":"Gastier\u2010Foster","sequence":"additional","affiliation":[{"name":"The Institute for Genomic Medicine, Nationwide Children's Hospital  Columbus Ohio"},{"name":"Department of Pathology and Pediatrics The Ohio State University College of Medicine  Columbus 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