Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II)

Achille Iolascon, Emanuele Miraglia Del Giudice, Silverio Perrotta, Matteo Granatiero, Leopoldo Zelante, Paolo Gasparini

Research output: Contribution to journalArticle

Abstract

Congenital dyserythropoietic anemia type II (CDA-II) is the most common form of inherited dyserythropoiesis. Previous studies have shown that the anion transporter (band 3) is narrower and it migrates faster on sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE); this aspect was related to insufficient glycosylation. Biochemical data support the hypothesis that this disease is due to a deficiency of N- acetylglucosaminyltransferase II (GnT II) or α-Mannosidase II (α-Man II), which represent the key to glycosylation, in addition, a third candidate gene is α-Man IIx, which shows a strong homology with α-Man II. The knowledge of the chromosomal localization of these putative genes allowed us to perform a linkage study using three sets of microsatellite markers flanking the candidate genes. Six families with two or more affected children were enrolled in this study. The data obtained exclude linkage to all three candidate genes. In consideration of the biochemical data (reduction of enzymatic activity) of the same enzymes, our results suggest the hypothesis that a defect in an unknown transcriptional factor is involved in CDA-II.

Original languageEnglish
Pages (from-to)4197-4200
Number of pages4
JournalBlood
Volume90
Issue number10
Publication statusPublished - Nov 15 1997

ASJC Scopus subject areas

  • Hematology

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    Iolascon, A., Del Giudice, E. M., Perrotta, S., Granatiero, M., Zelante, L., & Gasparini, P. (1997). Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II). Blood, 90(10), 4197-4200.