Giant SCA8 alleles in nine children whose mother has two moderately large ones

Jordi Corral; David Genís; Isabel Banchs; Hector San Nicolás; Judith Armstrong; Víctor Volpini

doi:10.1002/ana.20421

Giant SCA8 alleles in nine children whose mother has two moderately large ones

Ann Neurol. 2005 Apr;57(4):549-53. doi: 10.1002/ana.20421.

Authors

Jordi Corral¹, David Genís, Isabel Banchs, Hector San Nicolás, Judith Armstrong, Víctor Volpini

Affiliation

¹ Centre de Genètica Mèdica i Molecular-Institut de Recerca Oncològica-IDIBELL, Hospital Duran i Reynals, Barcelona, Spain.

PMID: 15786481
DOI: 10.1002/ana.20421

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Alleles
Blotting, Southern
Female
Frataxin
Gene Frequency / genetics
Humans
Iron-Binding Proteins / genetics
Male
Middle Aged
Nerve Tissue Proteins / genetics*
Pedigree
Penetrance
Polymerase Chain Reaction
RNA, Long Noncoding
RNA, Untranslated
Spinocerebellar Degenerations / genetics*
Trinucleotide Repeat Expansion*

Substances

ATXN8OS gene product, human
Iron-Binding Proteins
Nerve Tissue Proteins
RNA, Long Noncoding
RNA, Untranslated