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Two novel deletions in hypotonia-cystinuria syndrome.

Abstract：

: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.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Régal L,Aydin HI,Dieltjens AM,Van Esch H,Francois I,Okur I,Zeybek C,Meulemans S,Van Mol C,Van Bruwaene L,Then SH,Jaeken J,Creemers J

doi

10.1016/j.ymgme.2012.06.011

subject

Has Abstract

pub_date

2012-11-01 00:00:00

pages

614-6

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(12)00247-8

journal_volume

107

pub_type

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