Congenital dyserythropoietic anemia type II: Exclusion of seven candidate genes

Carmela Lanzara, Romina Ficarella, Angela Totaro, Xin Chen, Roberta Roberto, Silverio Perrotta, Carla Lasalandra, Paolo Gasparini, Achille Iolascon, Massimo Carella

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)22-29
Number of pages8
JournalBlood cells, molecules & diseases
Volume30
Issue number1
DOIs
Publication statusPublished - Jan 2003

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Hematology

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