Human Molecular Genetics, Vol 6, 479-486, Copyright © 1997 by Oxford University Press
KM Timms, ML Bondeson, MA Ansari-Lari, K Lagerstedt, DM Muzny, SP Dugan-Rocha, DL Nelson, U Pettersson and RA Gibbs
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
genomic 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 (IDS psi), showed normal expression of loci
distal to IDS. Together, these results identify FMR2 as a candidate gene
for seizures, when mutated along with IDS.
ARTICLES
Molecular and phenotypic variation in patients with severe Hunter syndrome
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
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