Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.
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.
Martens
Kevin
K
Laboratory for Biochemical Neuro-endocrinology, Department for Human Genetics, University of Leuven and Flanders Interuniversity Institute for Biotechnology, Gent, Belgium
Heulens
Inge
I
Meulemans
Sandra
S
Zaffanello
Marco
M
Tilstra
David
D
Hes
Frederik J
FJ
Rooman
Raoul
R
François
Inge
I
de Zegher
Francis
F
Jaeken
Jaak
J
Matthijs
Gert
G
Creemers
John W M
JW
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
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