title: Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.
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.
authors.affiliation: Laboratory for Biochemical Neuro-endocrinology, Department for Human Genetics, University of Leuven and Flanders Interuniversity Institute for Biotechnology, Gent, Belgium
authors.forename: Kevin
authors.initials: K
authors.lastname: Martens
authors.forename: Inge
authors.initials: I
authors.lastname: Heulens
authors.forename: Sandra
authors.initials: S
authors.lastname: Meulemans
authors.forename: Marco
authors.initials: M
authors.lastname: Zaffanello
authors.forename: David
authors.initials: D
authors.lastname: Tilstra
authors.forename: Frederik J
authors.initials: FJ
authors.lastname: Hes
authors.forename: Raoul
authors.initials: R
authors.lastname: Rooman
authors.forename: Inge
authors.initials: I
authors.lastname: François
authors.forename: Francis
authors.initials: F
authors.lastname: de Zegher
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
authors.forename: John W M
authors.initials: JW
authors.lastname: Creemers
mesh_terms: D026923:Amino Acid Transport Systems, Basic / Q000235:genetics; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003555:Cystinuria / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D005808:Genes, Recessive; D005828:Genetics, Population; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D009123:Muscle Hypotonia / Q000151:congenital / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D000085822:Prolyl Oligopeptidases; D012697:Serine Endopeptidases / Q000235:genetics; D013577:Syndrome
chemical_list: D026923:Amino Acid Transport Systems, Basic; D026921:Amino Acid Transport Systems, Neutral; D017931:DNA Primers; C489857:SLC3A1 protein, human; D012697:Serine Endopeptidases; C000705287:PREPL protein, human; D000085822:Prolyl Oligopeptidases