{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T23:31:52Z","timestamp":1787614312177,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,3,7]],"date-time":"2022-03-07T00:00:00Z","timestamp":1646611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>By 2021, 10 cases of fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM #618278) syndrome have been reported, and five causative variants in the <jats:italic>NHLRC2<\/jats:italic> gene (*618277) have been identified. First reported patients presented with recurrent respiratory distress, leading to death before the age of 3. In the recent publication by Rapp, Van Dijck, and Laugwitz et al., six more patients were described. The authors underlined the possibility of survival beyond infancy and neurodevelopmental delay occurrence.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Our goal is to characterize further neurobehavioral phenotype of patients with the <jats:italic>NHLRC2<\/jats:italic> gene variants. Therefore, we describe three previously unreported patients with FINCA's clinical features who survived into late childhood and reviewed the neurobehavioral phenotype of all known cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identify the so far unfamiliar neurological features of FINCA syndrome and a novel variant in the <jats:italic>NHLRC2:<\/jats:italic> c.977G&gt;T, p.(G326V) detected in one of the patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1899","type":"journal-article","created":{"date-parts":[[2022,3,7]],"date-time":"2022-03-07T20:09:56Z","timestamp":1646683796000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["<scp>FINCA syndrome\u2014Defining neurobehavioral phenotype in survivors into late childhood<\/scp>"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2193-3657","authenticated-orcid":false,"given":"Magdalena","family":"Badura\u2010Stronka","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences  Poznan Poland"},{"name":"Centers for Medical Genetics GENESIS  Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"\u015amigiel","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Rare Disorders, Department of Pediatrics Wroclaw Medical University  Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina","family":"Rutkowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Warsaw Medical University  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystyna","family":"Szyma\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Neuropathology Mossakowski Medical Research Centre, Polish Academy of Sciences  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam Sebastian","family":"Hirschfeld","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences  Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micha\u0142","family":"Monkiewicz","sequence":"additional","affiliation":[{"name":"Department of Radiology and Interventional Radiology The St. John Paul II HCP Medical Centre  Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Kosi\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Warsaw Medical University  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewelina","family":"Wola\u0144ska","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Rare Disorders, Department of Pediatrics Wroclaw Medical University  Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Rydzanicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Warsaw Medical University  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Latos\u2010Biele\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences  Poznan Poland"},{"name":"Centers for Medical Genetics GENESIS  Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6286-5526","authenticated-orcid":false,"given":"Rafa\u0142","family":"P\u0142oski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Warsaw Medical University  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0202391"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-020-0776-0"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13244\u2010018\u20100643\u20100"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s10020-020-00245-4"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.80.8.7629228"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btw044"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41419-017-0006-7"},{"issue":"24","key":"e_1_2_9_9_1","first-page":"4288","article-title":"Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease","volume":"27","author":"Paakkola 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