title: Giant SCA8 alleles in nine children whose mother has two moderately large ones.
abstract: We report here a family in which each of nine children has inherited giant SCA8 CTG expansions from a homozygous mother who has two moderately large SCA8 CTG alleles. In contrast, three homozygous male individuals and a case of coexistence of two expansions of the FRDA gene and one of SCA8, all of them with moderately large alleles, have transmitted their respective SCA8 expanded alleles with minor changes, as usually occurs in heterozygous male transmissions.
authors.affiliation: Centre de Genètica Mèdica i Molecular-Institut de Recerca Oncològica-IDIBELL, Hospital Duran i Reynals, Barcelona, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Corral
authors.forename: David
authors.initials: D
authors.lastname: Genís
authors.forename: Isabel
authors.initials: I
authors.lastname: Banchs
authors.forename: Hector
authors.initials: H
authors.lastname: San Nicolás
authors.forename: Judith
authors.initials: J
authors.lastname: Armstrong
authors.forename: Víctor
authors.initials: V
authors.lastname: Volpini
mesh_terms: D000328:Adult; D000483:Alleles; D015139:Blotting, Southern; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D016133:Polymerase Chain Reaction; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion; D000096923:Frataxin
chemical_list: D033862:Iron-Binding Proteins; D009419:Nerve Tissue Proteins; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D000096923:Frataxin; C415906:ATXN8OS gene product, human