Two novel deletions in hypotonia-cystinuria syndrome.

[cystinuria]

Hypotonia -cystinuria syndrome (HCS ) is an autosomal recessive disorder caused by combined deletions of SLC 3 A 1 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 .