title: Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes.
abstract: Congenital dyserythropoietic anemias (CDA) are genetic disorders characterized by anemia and ineffective erythropoiesis. Three main types of CDA have been distinguished: CDA I, CDAII and CDA III, whose loci have been already mapped. After the identification of the locus for CDA II, also known as HEMPAS (hereditary erythroblast multinuclearity with positive acidified serum test), on the long arm of chromosome 20 (20q11.2) we have analyzed by a mutational search seven candidate genes in a large series of CDA II patients. In particular, the following genes have been investigated: integrin beta 4 binding protein, ribophorin II, ubiquitin protein ligase ITCH, mannosil-oligosaccharide alpha-1,2-mannosidase like protein, erythrocyte protein band 4.1 like protein, zinc finger protein PLAGL2, and finally novel zinc finger protein. None of them resulted as the causative gene but several protein variants and DNA polymorphisms have been identified. These data exclude the role of the above mentioned genes in causing CDA II and add further information in the process of cloning the CDA II gene.
authors.affiliation: TIGEM (Telethon Institute of Genetics and Medicine), 80131 Naples, Italy.
authors.forename: Carmela
authors.initials: C
authors.lastname: Lanzara
authors.forename: Romina
authors.initials: R
authors.lastname: Ficarella
authors.forename: Angela
authors.initials: A
authors.lastname: Totaro
authors.forename: Xin
authors.initials: X
authors.lastname: Chen
authors.forename: Roberta
authors.initials: R
authors.lastname: Roberto
authors.forename: Silverio
authors.initials: S
authors.lastname: Perrotta
authors.forename: Carla
authors.initials: C
authors.lastname: Lasalandra
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
authors.forename: Achille
authors.initials: A
authors.lastname: Iolascon
authors.forename: Massimo
authors.initials: M
authors.lastname: Carella
mesh_terms: D000742:Anemia, Dyserythropoietic, Congenital / Q000145:classification / Q000235:genetics* / Q000473:pathology; D002851:Chromatography, High Pressure Liquid; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D004912:Erythrocytes / Q000473:pathology; D004920:Erythropoiesis / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic