European Journal of Human Genetics - Clinical utility gene card for: Mayer-Rokitansky-Kuster-Hauser syndrome

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 Morcel^1,2, Bruno Dallapiccola³, Laurent Pasquier⁴, Tanguy Watrin^1,5, Laura Bernardini⁶ and Daniel Guerrier^1,5

1. ¹CNRS, UMR 6061-IGDR, Equipe ‘Génétique des Pathologies Liées au Développement’, Rennes, France
2. ²CHU Rennes, Pôle d’Obstétrique Gynécologie et Médecine de la Reproduction, Rennes, France
3. ³Bambino Gesù Pediatric Hospital, IRCCS, Piazza S. Onofrio 4, Rome, Italy
4. ⁴CHU Rennes, Pôle de Pédiatrie et Génétique, Rennes, France
5. ⁵Rennes 1 University, UEB, IFR 140, Faculté de Médecine, Rennes, France
6. 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

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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

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