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CH\u20103\u2010MM\u20100104"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Biallelic pathogenic variants in <jats:italic>POMK<\/jats:italic> gene are associated with two types of dystroglycanopathies: limb\u2010girdle muscular dystrophy\u2010dystroglycanopathy, type C12 (MDDGC12), and congenital muscular dystrophy\u2010dystroglycanopathy with brain and eye anomalies, type A12 (MDDGA12). These disorders are very rare and have been previously reported in 10 affected individuals. We present two unrelated Lithuanian families with prenatally detected hydrocephalus due to a homozygous nonsense variant in the <jats:italic>POMK<\/jats:italic>. The first signs of hydrocephalus in the affected fetuses became evident at 15\u2009weeks of gestation and rapidly progressed, thus these clinical features are compatible with a diagnosis of MDDGA12. The association between pathogenic <jats:italic>POMK<\/jats:italic> variants and macrocephaly and severe hydrocephalus has been previously reported only in two families. Clinical and molecular findings presented in this report highlight congenital hydrocephalus as a distinct feature of POMK related disorders and a differentiator from other dystroglycanopathies. These findings further extend the spectrum of MDDGA12 syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.61453","type":"journal-article","created":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T06:56:39Z","timestamp":1576220199000},"page":"536-542","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Pathogenic homozygous variant in <i>POMK<\/i> gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0282-134X","authenticated-orcid":false,"given":"Egle","family":"Preiksaitiene","sequence":"first","affiliation":[{"name":"Department of Human and Medical Genetics Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University  Vilnius Lithuania"},{"name":"Centre for Medical Genetics Vilnius University Hospital Santaros Klinikos  Vilnius Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norine","family":"Voisin","sequence":"additional","affiliation":[{"name":"Center for Integrative Genomics University of Lausanne  Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie","family":"Gueneau","sequence":"additional","affiliation":[{"name":"Center for Integrative Genomics University of Lausanne  Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Egl\u0117","family":"Benu\u0161ien\u0117","sequence":"additional","affiliation":[{"name":"Centre for Medical Genetics Vilnius University Hospital Santaros Klinikos  Vilnius Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalija","family":"Krasovskaja","sequence":"additional","affiliation":[{"name":"Centre for Medical Genetics Vilnius University Hospital Santaros Klinikos  Vilnius 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Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre","family":"Reymond","sequence":"additional","affiliation":[{"name":"Center for Integrative Genomics University of Lausanne  Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vaidutis","family":"Ku\u010dinskas","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University  Vilnius 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