Two novel deletions in hypotonia-cystinuria syndrome

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 614-616

  Régal, Luc ^a,b   Aydin, Halil Ibrahim ^c   Dieltjens, Anne Marie ^d   Van Esch, Hilde ^a   Francois, Inge ^b   Okur, Ilyas ^c   Zeybek, Cengiz ^e   Meulemans, Sandra ^a   Van Mol, Christine ^d   Van Bruwaene, Lore ^d   Then, Siao Hann ^a   Jaeken, Jaak ^b   Creemers, John ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c Department of Pediatrics   (Turkey)

^d SINT AUGUSTINUS HOSPITAL   (Belgium)

^e Division of Pediatric Nephrology   (Turkey)

Author keywords

Cystinuria; Hypotonia cystinuria syndrome; PREPL

Indexed keywords

AMINOPEPTIDASE; CARRIER PROTEINS AND BINDING PROTEINS; PREPL PROTEIN; SLC3A1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; CYSTINURIA; DIAGNOSTIC ACCURACY; FEEDING BEHAVIOR; FEMALE; GENE DELETION; GROWTH HORMONE DEFICIENCY; HUMAN; HYPOTONIA CYSTINURIA SYNDROME; MALE; MUSCLE HYPOTONIA; NEWBORN; PRIORITY JOURNAL;

AMINO ACID TRANSPORT SYSTEMS, BASIC; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; BASE SEQUENCE; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 21; CRANIOFACIAL ABNORMALITIES; CYSTINURIA; FEMALE; GENETIC HETEROGENEITY; HOMOZYGOTE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUSCLE HYPOTONIA; SEQUENCE DELETION; SERINE ENDOPEPTIDASES; SEVERITY OF ILLNESS INDEX;

EID: 84867901535     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.06.011     Document Type: Article

References (9)

1. Jaeken J., Martens K., François I., Eyskens F., Lecointre C., Derua R., Meulemans S., Slootstra J.W., Waelkens E., De Zegher F., Creemers J.W., Matthijs G. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. Am. J. Hum. Genet. 2006, 78:38-51.
2. Martens K., Heulens I., Meulemans S., Zaffanello M., Tilstra D., Hes F.J., Rooman R., François I., De Zegher F., Jaeken J., Matthijs G., Creemers J.W.M. Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. Eur. J. Hum. Genet. 2007, 15:1029-1033.
3. Martens K., Jaeken J., Matthijs G., Creemers J.W.M. Multi-system disorder syndromes associated with cystinuria type I. Curr. Mol. Med. 2008, 8:544-550.
4. Chabrol B., Martens K., Meulemans S., Cano A., Jaeken J., Matthijs G., Creemers J.W.M. Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. J. Med. Genet. 2008, 45:314-318.
5. Parvari R., Brodyansky I., Elpeleg O., Moses S., Landau D., Hershkovitz E. Am. J. Hum. Genet. 2002, 69:969-975.
6. Boonen K., Régal L., Jaeken J., Creemers J.W. PREPL, a prolyl endopeptidase-like enzyme by name only? Lessons from patients. CNS Neurol. Disord. Drug Targets 2011, 10:355-360.
7. Ranke M.B., Schweizer R., Elminger M.W., Weber K., Binder G., Schwarze C.P., Wollmann H.A. Significance of basal IGF-I, IGFBP-3 and IGFBP-2 measurements in the diagnostics of short stature in children. Horm. Res. 2000, 54:60-68.
8. Juul A., Dalgaard P., Blum W.F., Bang P., Hall K., Michaelsen K.F., Müller J., Skakkebaek N.E. Serum levels of insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) in healthy infants, children, and adolescents: the relation to IGF-I, IGF-II, IGFBP-1, IGFBP-2, age, sex, body mass index, and pubertal maturation. J. Clin. Endocrinol. Metab. 1995, 80:2534-2542.
9. Ogier de Baulny H., Schiff M., Dionisi-Vici C. Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder. Mol. Genet. Metab. 2012, 106:12-17.