y COL4A1-related autosomal recessive encephalopathy in 2 Turkish children

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dc.authoridEdem, Pinar/0000-0002-0395-7866
dc.authoridBeltran, Sergi/0000-0002-2810-3445
dc.authoridYilmaz, Elmasnur/0000-0001-9711-0203
dc.authoridOktay, Yavuz/0000-0002-0158-2693
dc.authorwosidEdem, Pinar/AAR-7546-2020
dc.authorwosidBeltran, Sergi/I-3408-2015
dc.authorwosidHorvath, Rita/AAY-7042-2020
dc.authorwosidYılmaz, Elmasnur/ABH-3317-2020
dc.authorwosidPOLAT, Ayse/KLD-7523-2024
dc.authorwosidOktay, Yavuz/G-4794-2015
dc.contributor.authorYaramis, Ahmet
dc.contributor.authorLochmueller, Hanns
dc.contributor.authorTopf, Ana
dc.contributor.authorSonmezler, Ece
dc.contributor.authorYilmaz, Elmasnur
dc.contributor.authorHiz, Semra
dc.contributor.authorYis, Uluc
dc.date.accessioned2024-08-04T21:02:24Z
dc.date.available2024-08-04T21:02:24Z
dc.date.issued2020
dc.departmentİnönü Üniversitesien_US
dc.description.abstractObjective This study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. Methods Whole-exome sequencing and bioinformatic analysis of consanguineous families with children affected by early-onset, neurogenetic disorders was performed using the RD-Connect Genome-Phenome Analysis Platform. We also performed clinical, EEG, and neuroimaging analyses in unaffected siblings and parents. Results We have identified a homozygous missense mutation in COL4A1 (p.Gly1278Ser, NM_ 001845.5:c.3832G>T) in 2 siblings affected by small vessel brain disease with periventricular leukoencephalopathy and ocular defects. Presenting symptoms included mild weakness, hemiparetic gait, pyramidal findings, and seizures, whereas their intellectual and behavioral functions were normal. Both parents and 5 of the siblings (3 boys and 2 girls) were heterozygous for the variant. They did not show any clinical or laboratory signs of small vessel disease. Conclusions COL4A1 has previously been associated with dominant small vessel disease of the brain and other organs, manifesting with high penetrance in heterozygous mutation carriers. Our findings provide evidence that COL4A1-related encephalopathy can be inherited in an autosomal recessive manner, which is important for counseling, prognosis, and treatment. Genotypephenotype correlations remain to be established.en_US
dc.description.sponsorshipTurkish Scientific and Research Council (TUBITAK) [216S771]; Wellcome Trust Investigator [109915/Z/15/Z]; Wellcome Centre for Mitochondrial Research [203105/Z/16/Z]; Medical Research Council (UK) [MR/N025431/1]; European Research Council [309548]; Wellcome Trust [201064/Z/16/Z]; Newton Fund (UK/Turkey) [MR/N027302/1]; Wellcome Trust [201064/Z/16/Z] Funding Source: Wellcome Trusten_US
dc.description.sponsorshipThis study was supported by the Turkish Scientific and Research Council (TUBITAK) research grant 216S771 (A. Yaramis, S. Hiz, U. Yis, S. Gungor, and Y. Oktay). R. Horvath is a Wellcome Trust Investigator (109915/Z/15/Z), who receives support from the Wellcome Centre for Mitochondrial Research (203105/Z/16/Z), Medical Research Council (UK) (MR/N025431/1), the European Research Council (309548), the Wellcome Trust Pathfinder Scheme (201064/Z/16/Z), and the Newton Fund (UK/Turkey, MR/N027302/1).en_US
dc.identifier.doi10.1212/NXG.0000000000000392
dc.identifier.issn2376-7839
dc.identifier.issue1en_US
dc.identifier.pmid32042920en_US
dc.identifier.urihttps://doi.org/10.1212/NXG.0000000000000392
dc.identifier.urihttps://hdl.handle.net/11616/104728
dc.identifier.volume6en_US
dc.identifier.wosWOS:000530284200012en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherLippincott Williams & Wilkinsen_US
dc.relation.ispartofNeurology-Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCol4a1 Mutationsen_US
dc.subjectCollagenen_US
dc.subjectHemorrhageen_US
dc.subjectPhenotypeen_US
dc.titley COL4A1-related autosomal recessive encephalopathy in 2 Turkish childrenen_US
dc.typeArticleen_US

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