A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis.
During a survey of typical, dominant hereditary spherocytosis (HS) patients, we identified a frameshift mutation of the ankyrin gene in three unrelated probands. All three probands, who were from different ethnic backgrounds, suffered from severe HS requiring splenectomy. Analysis of both intragenic and flanking polymorphisms revealed that these probands did not share a common ankyrin allele, providing evidence that these mutations arose independently on separate chromosomal backgrounds. This frameshift mutation associated with severe HS, Ankyrin Florianópolis, is the first description of a recurrent mutation in the ankyrin gene.
Gallagher
P G
PG
Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520-8064, USA. patrick.gallagher@yale.edu
Ferreira
J D
JD
Costa
F F
FF
Saad
S T
ST
Forget
B G
BG
D017487:Ankyrins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005858:Germany; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011174:Portugal; D013103:Spherocytosis, Hereditary / Q000208:ethnology / Q000235:genetics* / Q000601:surgery; D013156:Splenectomy
D017487:Ankyrins