European Journal of Human Genetics advance online publication 24 August 2011; doi: 10.1038/ejhg.2011.163
Clinical utility gene card for: Cystinuria
Thomas Eggermann1, Klaus Zerres1, Virginia Nunes2,3,4, Mariona Font-Llitjós2,3,4, Luigi Bisceglia5, Anthoula Chatzikyriakidou6, Luca dello Strologo7, Elon Pras8, John Creemers9 and Manuel Palacin10
1Institut für Humangenetik, RWTH Aachen, Aachen, Germany
2Molecular Genetics laboratory-IDIBELL, Barcelona, Spain
3Genetics Section, Physiological Sciences II Department, University of Barcelona-IDIBELL, Barcelona, Spain
4U730 CIBERER, Barcelona, Spain
5UOC Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
6Genetics Unit, University Hospital, Ioannina, Greece
7Urology and Nephrology Department, Bambino Gesù Children's Hospital, Institute for Scientific Research (IRCCS), Rome, Italy
8The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel
9Center for Human Genetics, K.U. Leuven, Belgium
10Institute of Research in Biomedicine, U731 CIBERER, University of Barcelona, Barcelona, Spain
Correspondence: Professor Dr T Eggermann, Institute of Human Genetics, University Hospital Aachen, Pauwelsstr. 30, 52074 Aachen, Germany. Tel: +49 241 808 8008; Fax: +49 241 808 2394; E-mail: teggermann@ukaachen.de
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DISEASE CHARACTERISTICS
1.1 Name of the disease (synonyms)
Cystinuria; currently two additional autosomal recessive contiguous cystinuria-associated syndromes in 2p21 are known: HCS and the 2p21 deletion syndrome.
1.2 OMIM# of the disease
Cystinuria: 220100, HCS: 606407.
1.3 Name of the analysed genes or DNA/chromosome segments
SLC3A1, SLC7A9, 2p21.
1.4 OMIM# of the gene(s)
SLC3A1: 104614,
SLC7A9: 604144.
1.5 Mutational spectrum
Point mutations, multiexon deletions and duplications, genomic rearrangements.1, 2, 3, 4, 5, 6, 7, 8
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European Journal of Human Genetics - Clinical utility gene card for: Cystinuria
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