title: Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio.
abstract: A subset of spherocytosis cases associated with mutations of the ANK1 gene present an apparently recessive inheritance pattern on a clinical and haematological basis. We identified three novel out-of-frame deletions in the ANK1 gene: allele Bari (1361delG), Napoli II (2883delC) and Anzio (3032delCA) in three Italian patients, two of whom have been splenectomized. Analysis of the cDNA showed small or trace amounts of ankyrin mRNAs in Bari, Napoli II and Anzio. The parents were normal clinically and haematologically and did not carry the mutations exhibited by their children. We confirmed the de novo character of the HS mutations based on paternity testing. Recessive HS associated with the ANK1 gene is probably rarer than initially thought, and spherocytosis may often be due to de novo mutations.
authors.affiliation: CNRS URA 1171, Genetique Moleculaire Humaine, Institut Pasteur de Lyon, France.
authors.forename: J
authors.initials: J
authors.lastname: Randon
authors.forename: E
authors.initials: E
authors.lastname: Miraglia del Giudice
authors.forename: M
authors.initials: M
authors.lastname: Bozon
authors.forename: S
authors.initials: S
authors.lastname: Perrotta
authors.forename: M
authors.initials: M
authors.lastname: De Vivo
authors.forename: A
authors.initials: A
authors.lastname: Iolascon
authors.forename: J
authors.initials: J
authors.lastname: Delaunay
authors.forename: L
authors.initials: L
authors.lastname: Morle
mesh_terms: D017487:Ankyrins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics; D017422:Sequence Analysis, DNA; D013103:Spherocytosis, Hereditary / Q000235:genetics*
chemical_list: D017487:Ankyrins; D012333:RNA, Messenger