Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome
نویسندگان
چکیده
منابع مشابه
Deletion of Prepl Causes Growth Impairment and Hypotonia in Mice
Genetic studies of rare diseases can identify genes of unknown function that strongly impact human physiology. Prolyl endopeptidase-like (PREPL) is an uncharacterized member of the prolyl peptidase family that was discovered because of its deletion in humans with hypotonia-cystinuria syndrome (HCS). HCS is characterized by a number of physiological changes including diminished growth and neonat...
متن کاملPREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.
OBJECTIVE To investigate the genetic and physiologic basis of the neuromuscular symptoms of hypotonia-cystinuria syndrome (HCS) and isolated PREPL deficiency, and their response to therapy. METHODS We performed molecular genetic, histochemical, immunoblot, and ultrastructural studies, investigated neuromuscular transmission in vitro in a patient with isolated PREPL deficiency, and evaluated t...
متن کاملCystinuria: an inborn cause of urolithiasis
Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones. Among the heterogeneous group of kidney stone diseases, cystinuria is the only disorder which is exclusively caused by gene mutations. So far, two genes responsible for cystinuria have been identified: SLC3A1 (chromosome 2p21) encodes the heavy ...
متن کاملComparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
Recent developments in the genetics and physiology of cystinuria do not support the traditional classification, which is based on the excretion of cystine and dibasic amino acids in obligate heterozygotes. Mutations of only two genes (SLC3A1 and SLC7A9), identified by the International Cystinuria Consortium (ICC), have been found to be responsible for all three types of the disease. The ICC set...
متن کاملDe novo JAG1 gene deletion causes atypical severe Alagille syndrome in a Chinese child
Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder caused by defects in the Notch signaling pathway. The classical criteria for ALGS diagnosis include bile duct paucity on liver biopsy in association with three of the following: Cholestasis, congenital heart disease, vertebral abnormalities, characteristic facial features, and posterior embryotoxon. However, the diagnosis is ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Case Reports
سال: 2009
ISSN: 1757-790X
DOI: 10.1136/bcr.08.2008.0719