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Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.
Gasparini S, Balestrini S, Saccaro LF, Bacci G, Panichella G, Montomoli M, Cantalupo G, Bigoni S, Mancano G, Pellacani S, Leuzzi V, Volpi N, Mari F, Melani F, Cavallin M, Pisano T, Porcedda G, Vaglio A, Mei D, Barba C, Parrini E, Guerrini R. Gasparini S, et al. Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32099. doi: 10.1002/ajmg.c.32099. Epub 2024 Jul 17. Am J Med Genet C Semin Med Genet. 2024. PMID: 39016117
COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2-related manifestations is challenging, and there is no consensus on management and preventative strategies. Based on a systematic revie …
COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1 …
Fetal Intraparenchymal Hemorrhage Imaging Patterns, Etiology, and Outcomes: A Single Center Cohort Study.
Vassar R, George E, Mogga A, Li Y, Norton ME, Glenn O, Gano D. Vassar R, et al. Ann Neurol. 2024 Dec;96(6):1137-1147. doi: 10.1002/ana.27072. Epub 2024 Aug 31. Ann Neurol. 2024. PMID: 39215698
An etiology was identified in 75%, including twin-twin transfusion syndrome (TTTS, n = 10), COL4A1/2 variants (n = 8), or other fetal/maternal conditions (n = 15). COL4A1/2 variants were associated with focal IPH and the presence of hemorrhagic porencephaly, …
An etiology was identified in 75%, including twin-twin transfusion syndrome (TTTS, n = 10), COL4A1/2 variants (n = 8), or other fetal …
Spectrum of Fetal Intraparenchymal Hemorrhage in COL4A1/A2-Related Disorders.
George E, Vassar R, Mogga A, Li Y, Norton ME, Gano D, Glenn OA. George E, et al. Pediatr Neurol. 2023 Oct;147:63-67. doi: 10.1016/j.pediatrneurol.2023.07.008. Epub 2023 Jul 18. Pediatr Neurol. 2023. PMID: 37562171 Free article.
BACKGROUND: COL4A1/A2 variants affecting the alpha 1 and 2 chains of type IV collagen are increasingly recognized as a cause of fetal and neonatal intracranial hemorrhage, porencephaly, and schizencephaly. Fetal magnetic resonance imaging (MRI) findings in COL4A1 …
BACKGROUND: COL4A1/A2 variants affecting the alpha 1 and 2 chains of type IV collagen are increasingly recognized as a cause of fetal …
Collagen IV in Gould syndrome and Alport syndrome.
Massoudi D, Miner JH, Gould DB. Massoudi D, et al. Nat Rev Nephrol. 2025 Nov;21(11):778-793. doi: 10.1038/s41581-025-00982-x. Epub 2025 Jul 31. Nat Rev Nephrol. 2025. PMID: 40745060 Review.
Consistent with this broad distribution, variants in COL4A1 and COL4A2 cause a congenital multisystem disorder called Gould syndrome (GS), which is characterized by cerebral, ocular, muscular and kidney defects. The main clinical consequences involve the cerebral vasculatu …
Consistent with this broad distribution, variants in COL4A1 and COL4A2 cause a congenital multisystem disorder called Gould syndrome …
Phenotype and surgical management of drug-resistant epilepsy in patients with COL4A1 and COL4A2 variants.
Shi J, Lin J, Bai J, Wang H, Zhang B, Feng Q, Sun Z, Liu Y, He J, Song X, Wang S, Liu X, Zhou W. Shi J, et al. Epilepsia Open. 2025 Jun;10(3):725-735. doi: 10.1002/epi4.70014. Epub 2025 Mar 8. Epilepsia Open. 2025. PMID: 40055992 Free PMC article.
METHODS: We retrospectively analyzed the clinical, electroencephalography, and neuroimaging data; genetic characteristics; surgical details; and prognosis of 8 patients (4 boys) treated for COL4A1/2-related epilepsy at Tsinghua University Yuquan Hospital. RESULTS: Two of t …
METHODS: We retrospectively analyzed the clinical, electroencephalography, and neuroimaging data; genetic characteristics; surgical details; …
Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions.
Maurice P, Guilbaud L, Garel J, Mine M, Dugas A, Friszer S, Maisonneuve E, Moutard ML, Coste T, Héron D, Tournier-Lasserve E, Garel C, Jouannic JM. Maurice P, et al. Ultrasound Obstet Gynecol. 2021 May;57(5):783-789. doi: 10.1002/uog.22106. Ultrasound Obstet Gynecol. 2021. PMID: 32515830 Free article.
A variant of unknown significance was found in four fetuses: in the COL4A1 gene in one case and in the COL4A2 gene in three cases. No COL4A1 or COL4A2 mutation was found in the remaining nine fetuses. ...CONCLUSIONS: A phenotype suggestive of cerebral injury was fou …
A variant of unknown significance was found in four fetuses: in the COL4A1 gene in one case and in the COL4A2 gene in three cases. No …
Phenotypic characterization of COL4A1-related West syndrome.
Wang QH, Zou LP, Zhang MN, Wang YY, Lu Q, Shen YW, He W, Chen HM, Luo XM, Wang J, Zhang TT. Wang QH, et al. Epilepsy Res. 2020 Aug;164:106349. doi: 10.1016/j.eplepsyres.2020.106349. Epub 2020 May 5. Epilepsy Res. 2020. PMID: 32446163
Collagen type IV, alpha-1 (COL4A1) variants can cause cerebrovascular diseases, such as porencephaly and cerebral hemorrhage, in addition to other autosomal dominant hereditary diseases. ...Genetic testing results indicated that all patients had heterozygous variant …
Collagen type IV, alpha-1 (COL4A1) variants can cause cerebrovascular diseases, such as porencephaly and cerebral hemorrhage, …
Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome.
Burns A, Hug J. Burns A, et al. BMJ Case Rep. 2024 Feb 14;17(2):e259103. doi: 10.1136/bcr-2023-259103. BMJ Case Rep. 2024. PMID: 38355202
Gould syndrome is an autosomal dominant syndrome due to a COL4A1 or COL4A2 mutation that is commonly characterised by familial porencephaly, seizures, intracranial haemorrhages, cataracts, nephropathies and more. ...Referral to neurology and a subsequent MRI demonst …
Gould syndrome is an autosomal dominant syndrome due to a COL4A1 or COL4A2 mutation that is commonly characterised by familial por …
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. Itai T, et al. J Med Genet. 2021 Aug;58(8):505-513. doi: 10.1136/jmedgenet-2020-106896. Epub 2020 Jul 30. J Med Genet. 2021. PMID: 32732225
METHODS: We examined COL4A1/2 in 218 individuals with suspected COL4A1/2-related brain defects. Among those arising from COL4A1/2 variants, we focused on individuals showing prenatal abnormal ultrasound findings and validated their prenatal and postnatal clin …
METHODS: We examined COL4A1/2 in 218 individuals with suspected COL4A1/2-related brain defects. Among those arising from CO …
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N. Cavallin M, et al. Eur J Med Genet. 2018 Dec;61(12):765-772. doi: 10.1016/j.ejmg.2018.10.004. Epub 2018 Oct 11. Eur J Med Genet. 2018. PMID: 30315939
Mutations in COL4A1 have been reported in schizencephaly and porencephaly combined with microbleeds or calcifications, often associated with ocular and renal abnormalities, myopathy, elevated creatine kinase levels and haemolytic anaemia. ...Brain malformations incl …
Mutations in COL4A1 have been reported in schizencephaly and porencephaly combined with microbleeds or calcifications, often a …
31 results