{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:13:01Z","timestamp":1791295981975,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,2,23]],"date-time":"2015-02-23T00:00:00Z","timestamp":1424649600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Regione Lombardia (Italy) government Independent Research Project (SVE-LA Project)","award":["DGRS 13465-22\/12\/2010"],"award-info":[{"award-number":["DGRS 13465-22\/12\/2010"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>COL4A1 is located in humans on chromosome13q34 and it encodes the alpha 1 chain of type IV collagen, a component of basal membrane. It is expressed mainly in the brain, muscles, kidneys and eyes. Different COL4A1 mutations have been reported in many patients who present a very wide spectrum of clinical symptoms. They typically show a multisystemic phenotype. Here we report on the case of a patient carrying a novel de novo splicing mutation of COL4A1 associated with a distinctive clinical picture characterized by onset in infancy and an unusual evolution of the neuroradiological features. At three months of age, the child was diagnosed with a congenital cataract, while his brain MRI was normal. Over the following years, the patient developed focal epilepsy, mild diplegia, asymptomatic microhematuria, raised creatine kinase levels, MRI white matter abnormalities and brain calcification on CT. During the neuroradiological follow\u2010up the extension and intensity of the brain lesions progressively decreased. The significance of a second variant in COL4A1 carried by the child and inherited from his father remains to be clarified. In conclusion, our patient shows new aspects of this collagenopathy and possibly a COL4A1 compound heterozygosity. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36907","type":"journal-article","created":{"date-parts":[[2015,2,23]],"date-time":"2015-02-23T10:16:01Z","timestamp":1424686561000},"page":"810-815","source":"Crossref","is-referenced-by-count":10,"title":["A novel mutation in <i>COL4A1<\/i> gene: A possible cause of early postnatal cerebrovascular events"],"prefix":"10.1002","volume":"167","author":[{"given":"Alice","family":"Decio","sequence":"first","affiliation":[{"name":"Child Neurology and Psychiatry Unit Department of Brain and Behavioural Sciences University of Pavia Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Tonduti","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit Department of Brain and Behavioural Sciences University of Pavia Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pichiecchio","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology C. Mondino National Neurological Institute Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Vetro","sequence":"additional","affiliation":[{"name":"Biotechnology Research Laboratory IRCCS Policlinico San Matteo Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Ciccone","sequence":"additional","affiliation":[{"name":"Center for Genetic and Therapeutic Approaches C. Mondino National Neurological Institute Pavia Italy"},{"name":"Department of Molecular Medicine University of Pavia Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"Limongelli","sequence":"additional","affiliation":[{"name":"Center for Genetic and Therapeutic Approaches C. 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