The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

• Published in: Genetics in medicine Vol. 17; no. 11; pp. 843 - 853
• Main Authors: Meuwissen, Marije E. C., Halley, Dicky J. J., Smit, Liesbeth S., Lequin, Maarten H., Cobben, Jan M., de Coo, René, van Harssel, Jeske, Sallevelt, Suzanne, Woldringh, Gwendolyn, van der Knaap, Marjo S., de Vries, Linda S., Mancini, Grazia M. S.
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.11.2015; Elsevier Limited
• Subjects: 692/420/2489/144; 692/699/75/593/1370; Alleles; Anterior Eye Segment - abnormalities; Biomedicine; Brain - pathology; Cerebral Hemorrhage - diagnosis; Cerebral Hemorrhage - genetics; Cohort Studies; Collagen Type IV - genetics; Eye Abnormalities - diagnosis; Eye Abnormalities - genetics; Eye Diseases, Hereditary; Family; Gene Order; Genetic Association Studies; Genetic Loci; Genotype; Human Genetics; Humans; Laboratory Medicine; Leukomalacia, Periventricular - diagnosis; Leukomalacia, Periventricular - genetics; Magnetic Resonance Imaging - methods; Mutation; Pedigree; Phenotype; Porencephaly - diagnosis; Porencephaly - genetics; review; phenotype; familial porencephaly; cerebral hemorrhage

Two proα1(IV) chains, encoded by COL4A1 , form trimers that contain, in addition, a proα2(IV) chain encoded by COL4A2 and are the major component of the basement membrane in many tissues. Since 2005, COL4A1 mutations have been known as an autosomal dominant cause of hereditary porencephaly. COL4A1 a...