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Download The hypotonia-cystinuria syndrome, a Prader-Willi syndrome
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07-2167 The hypotonia-cystinuria syndrome, a Prader-Willi syndrome-like disease. J. Jaeken1, F. Eyskens2, I. François1 Centre for Metabolic Diseases, University Hospital Gasthuisberg, Leuven 1; Provincial Centre for Metabolic Disorders, Antwerp, Belgium2. Hypotonia-cystinuria syndrome (HCS) is a recessive contiguous gene syndrome caused by microdeletions of SLC3A1 and PREPL on chromosome 2p21. Patients present with generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor craniofacial dysmorphism (dolichocephaly, ptosis of the eyelids), and failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. Response to growth hormone therapy is usually excellent. Patients show a tendency towards late puberty and hypergonadotropic hypogonadism. Serum dehydroepiandrosterone sulphate levels are low in all children older than 6 years, a finding suggestive of lowered andrenarche. Serum prolactin levels are not elevated. Fourteen families have been reported initially from Belgium and France but recently also from the Netherlands, Italy, Canada and the United States of America. The function of the protein encoded by PREPL remains enigmatic. HCS should be considered in the differential diagnosis of neonatal hypotonia, and in patients with the Prader-Willi syndrome phenotype lacking the typical genotype. References Jaeken J, Martens K, François I, et al. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. Am J Hum Genet 2006; 78: 38-51. Martens K, Heulens I, Meulemans S, et al. Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. Eur J Hum Genet 2007; 15: 1029-1033.
