Journal Article

Molecular and phenotypic variation in patients with severe Hunter syndrome

Kirsten M. Timms, Marie-Louise Bondeson, M. Ali Ansari-Lari, Kristina Lagersted, Donna M. Muzny, Shannon P. Dugan-Rocha, David L. Nelson, Ulf Pettersson and Richard A. Gibbs

in Human Molecular Genetics

Volume 6, issue 3, pages 479-486
Published in print March 1997 | ISSN: 0964-6906
Published online March 1997 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/6.3.479
Molecular and phenotypic variation in patients with severe Hunter syndrome

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Severe Hunter syndrome is a fatal X-linked lysosomal storage disorder caused by iduronate-2-sulphatase (IDS) deficiency. Patients with complete deletion of the IDS locus often have atypical phenotypes including ptosis, obstructive sleep apnoea, and the occurrence of seizures. We have used genomie DNA sequencing to identify several new genes in the IDS region. DNA deletion patients with atypical symptoms have been analysed to determine whether these atypical symptoms could be due to involvement of these other loci. The occurrence of seizures in two individuals correlated with a deletion extending proximal of IDS, up to and including part of the FMR2 locus. Other (non-seizure) symptoms were associated with distal deletions. In addition, a group of patients with no variant symptoms, and a characteristic rearrangement involving a recombination between the IDS gene and an adjacent IDS pseudogene (IDSψ), showed normal expression of loci distal to IDS. Together, these results identify FMR2 as a candidate gene for seizures, when mutated along with IDS.

Journal Article.  4831 words.  Illustrated.

Subjects: Genetics and Genomics

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