title: Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency.
abstract: This report represents an attempt to define the rate of beta-spectrin de novo mutations affecting mRNA accumulation in patients with hereditary spherocytosis (HS). 19 HS children with haematologically normal parents and varying degrees of spectrin deficiency were studied. 13 of the 19 cases who were heterozygous at the genomic level for polymorphisms in the beta-spectrin coding region were further studied. However, in an analysis of reverse-transcripted amplified cDNA from the regions of the polymorphisms, seven patients appeared to be homozygous, suggesting the occurrence of de novo mutational events affecting expression of one beta-spectrin allele. We conclude that in HS patients with isolated spectrin reduction and normal parents the apparently recessive pattern of inheritance may frequently be associated with de novo monoallelic expression of beta-spectrin.
authors.affiliation: Dipartimento di Pediatria, Seconda Università degli Studi di Napoli, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Miraglia del Giudice
authors.forename: C
authors.initials: C
authors.lastname: Lombardi
authors.forename: M
authors.initials: M
authors.lastname: Francese
authors.forename: B
authors.initials: B
authors.lastname: Nobili
authors.forename: M L
authors.initials: ML
authors.lastname: Conte
authors.forename: G
authors.initials: G
authors.lastname: Amendola
authors.forename: S
authors.initials: S
authors.lastname: Cutillo
authors.forename: A
authors.initials: A
authors.lastname: Iolascon
authors.forename: S
authors.initials: S
authors.lastname: Perrotta
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D015870:Gene Expression; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000378:metabolism; D013049:Spectrin / Q000172:deficiency / Q000235:genetics*; D013103:Spherocytosis, Hereditary / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; D013049:Spectrin