Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

• Published in: American journal of human genetics Vol. 90; no. 1; pp. 61 - 68
• Main Authors: Huppke, Peter, Brendel, Cornelia, Kalscheuer, Vera, Korenke, Georg Christoph, Marquardt, Iris, Freisinger, Peter, Christodoulou, John, Hillebrand, Merle, Pitelet, Gaele, Wilson, Callum, Gruber-Sedlmayr, Ursula, Ullmann, Reinhard, Haas, Stefan, Elpeleg, Orly, Nürnberg, Gudrun, Nürnberg, Peter, Dad, Shzeena, Møller, Lisbeth Birk, Kaler, Stephen G., Gärtner, Jutta
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 13.01.2012; Cell Press; Elsevier
• Subjects: Base Sequence; Biological and medical sciences; Cataract - congenital; Cataract - genetics; Cerebellum - abnormalities; Cerebellum - growth & development; Ceruloplasmin - analysis; Ceruloplasmin - metabolism; Child; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 3 - genetics; Copper; Copper - blood; Enzymes; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetic disorders; Genetic research; Genetics of eukaryotes. Biological and molecular evolution; Genomics; Hearing Loss - congenital; Hearing Loss - genetics; Hep G2 Cells; Humans; Infant; Lens diseases; Male; Medical genetics; Medical sciences; Membrane Transport Proteins - biosynthesis; Membrane Transport Proteins - genetics; Molecular and cellular biology; Molecular Sequence Data; Mutation; Mutation - genetics; Ophthalmology; Proteins; Severity of Illness Index; Human; Cataract; Congenital; Auditory disorder; Genetic disease; Hearing loss; Eye disease; Lens disease; Low; Autosomal character; ENT disease; Recessive character; Genetics; Serum; Mutation; Copper; Anterior segment disease

Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia. We report on five patients from four unrelated families with these biochemical findings who presented with a lethal autosomal-recessive syndrome of congenital cataracts, hea...