{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:09:56Z","timestamp":1792166996930,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,2,16]],"date-time":"2016-02-16T00:00:00Z","timestamp":1455580800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>A clinical case is described of growth retardation, severe developmental delay, facial dysmorphic features with microcephaly, as well as congenital cataract, schizencephaly, periventricular calcifications, and epilepsy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>TORCH infection was suspected, but all tests for toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus were negative for the child and her mother; however, an increased level of antibodies against parvovirus B19 was detected in the proband.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Chromosomal analysis and array\u2010CGH showed no aberration. Target capture sequencing for <jats:italic>COL4A1<\/jats:italic> and <jats:italic>COL4A2<\/jats:italic> revealed a de novo <jats:italic>COL4A1<\/jats:italic> mutation (c.2123G&gt;T [p.Gly708Val]). The mutation occurred at a highly conserved Gly residue in the Gly\u2010X\u2010Y repeat of the collagen triple helical domain, suggesting that these mutations may alter the collagen IV \u03b11\u03b11\u03b12 heterotrimers. The mutation was predicted to be damaging.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We suggest that <jats:italic>COL4A1<\/jats:italic> testing should be considered in patients with schizencephaly as well as with phenotype suggesting TORCH infection without any proven etiological factors. Birth Defects Research (Part A) 106:304\u2013307, 2016. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23488","type":"journal-article","created":{"date-parts":[[2016,2,16]],"date-time":"2016-02-16T08:45:01Z","timestamp":1455612301000},"page":"304-307","source":"Crossref","is-referenced-by-count":20,"title":["Novel <i>COL4A1<\/i> mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection"],"prefix":"10.1002","volume":"106","author":[{"given":"Robert","family":"Smigiel","sequence":"first","affiliation":[{"name":"Department of Social Pediatrics Wroclaw Medical University  Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Cabala","sequence":"additional","affiliation":[{"name":"Department of Social Pediatrics Wroclaw Medical University  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