Clinical Utility Gene Card
European Journal of Human Genetics advance online publication 7 September 2011; doi: 10.1038/ejhg.2011.158
Clinical utility gene card for: Mayer–Rokitansky–Küster–Hauser syndrome
Karine Morcel1,2, Bruno Dallapiccola3, Laurent Pasquier4, Tanguy Watrin1,5, Laura Bernardini6 and Daniel Guerrier1,5
- 1CNRS, UMR 6061-IGDR, Equipe ‘Génétique des Pathologies Liées au Développement’, Rennes, France
- 2CHU Rennes, Pôle d’Obstétrique Gynécologie et Médecine de la Reproduction, Rennes, France
- 3Bambino Gesù Pediatric Hospital, IRCCS, Piazza S. Onofrio 4, Rome, Italy
- 4CHU Rennes, Pôle de Pédiatrie et Génétique, Rennes, France
- 5Rennes 1 University, UEB, IFR 140, Faculté de Médecine, Rennes, France
- 6Mendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, Viale dei Cappuccini s.n.c., San Giovanni Rotondo (FG), Italy
Correspondence: Dr D Guerrier, CNRS, UMR 6061-IGDR, Equipe ‘Génétique des Pathologies Liées au Développement’, 2 avenue du Professeur Léon Bernard, CS 34317, Rennes Cedex 35043, France. Tel: +33 (0) 2 23 23 46 79; Fax: +33 (0) 2 23 23 44 78; E-mail: daniel.guerrier@univ-rennes1.fr
1. DISEASE CHARACTERISTICS
1.1 Name of the disease (synonyms)
Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, MRKH type I or isolated MRKH or Rokitansky sequence, MRKH type II or MURCS association (Müllerian duct aplasia, renal dysplasia and cervical somite anomalies), congenital absence of the uterus and vagina (CAUV), genital renal ear syndrome and Müllerian aplasia (MA).
1.2 OMIM# of the disease
277000 (MRKH, CAUV) and 601076 (MURCS).
1.3 Name of the analyzed genes or DNA/chromosome segments
1q21.1, 4q34-qter, 8p23.1, 10p14–15, 16p11.2, 17q12, 22q11.21 and Xpter-p22.32.
1.4 OMIM# of the gene(s)
Putative candidate genes: 189907 (TCF2),1, 2 601999 (LHX1),2, 3, 4, 5 312865 (SHOX),6 602427 (TBX6)2 609783 (ITIH5).7
European Journal of Human Genetics - Clinical utility gene card for: Mayer-Rokitansky-Kuster-Hauser syndrome: - Enviado mediante la barra Google
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