Two novel deletions in hypotonia-cystinuria syndrome

Regal L., Aydin H. I., Dieltjens A., Van Esch H., Francois I., OKUR İ., ...More

MOLECULAR GENETICS AND METABOLISM, vol.107, no.3, pp.614-616, 2012 (SCI-Expanded) identifier identifier identifier


Hypotonia-cystinuria syndrome (HCS) is an autosomal recessive disorder caused by combined deletions of SLC3A1 and PREPL. Clinical features include cystinuria, neonatal hypotonia with spontaneous improvement, poor feeding in neonates, hyperphagia in childhood, growth hormone deficiency, and variable cognitive problems. Only 14 families with 6 different deletions have been reported. Patients are often initially misdiagnosed, while correct diagnosis enables therapeutic interventions. We report two novel deletions, further characterizing the clinical and molecular genetics spectrum of HCS. (C) 2012 Elsevier Inc. All rights reserved.