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Title: Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome
Authors: Martens, Kevin
Heulens, Inge
Meulemans, Sandra
Zaffanello, Marco
Tilstra, David
Hes, Frederik J
Rooman, Raoul
Francois, Inge
de Zegher, Francis
Jaeken, Jacques
Matthijs, Gert
Creemers, John # ×
Issue Date: Oct-2007
Publisher: Karger
Series Title: European Journal of Human Genetics vol:15 issue:10 pages:1029-1033
Abstract: Hypotonia-cystinuria syndrome (HCS) is a recessive disorder caused by microdeletions of SLC3A1 and PREPL on chromosome 2p21. Patients present with generalized hypotonia at birth, failure to thrive, growth retardation and cystinuria type I. While the initially described HCS families live in small regions in Belgium and France, we have now identified HCS alleles in patients and carriers from the Netherlands, Italy, Canada and United States of America. Surprisingly, among the nine deletions detected in those patients, only one novel deletion was found. Furthermore, one previously described deletion was found six times, another twice. Finally, we have investigated the frequency of both deletions using a random Belgian cohort. Given the global occurrence, HCS should be considered in the differential diagnosis of neonatal hypotonia.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Associated Laboratories - miscellaneous (-)
Section Newborn (-)
Section Child - Miscellaneous (-)
Clinical Genetics Section (-)
Molecular Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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