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Hindi Research Article, J Genit Syst Disor Vol: 4 Issue: 2
Mutational Analysis of the LHX1 Gene in a French National Cohort of Patients with Mayer-Rokitansky-Küster-Hauser Syndrome
| Guerrier D1,3*, Folléa N1,3, Voltzenlogel M-C1,2, Pasquier L4 and Morcel K1,2 | |
| 1CNRS UMR 6290 – Institute for Genetics and Development of Rennes (IGDR), F-35043 Rennes, France | |
| 2University Hospital of Rennes, Obstetrics, Gynaecology and Reproductive Medicine Pole (POGYRRE) F-35033 Rennes, France | |
| 3University of Rennes 1, UEB, UMS 3840-Biosit, Faculty of Medicine, F-35043 Rennes, France | |
| 4University Hospital of Rennes, Medical Genetics Department, F-35033 Rennes, France | |
| Corresponding author : Daniel Guerrier, CNRS UMR 6290 – IDGR, University of Rennes 1 – Faculty of Medicine – 2 avenue du Professeur Léon Bernard, Rennes, F–35033, France Tel: +33 (0)2 23 23 46 79 E–mail: daniel.guerrier@univ–rennes1.fr, nicolas.follea@univ–rennes1.fr, mariecatherine.voltzenlogel@chu–rennes.fr, karine.morcel@chu–rennes.fr |
|
| Received: May 29, 2015 Accepted: June 23, 2015 Published: June 30, 2015 | |
| Citation: Guerrier D, Folléa N, Voltzenlogel M–C, Pasquier L, Morcel K (2015) Mutational Analysis of the LHX1 Gene in a French National Cohort of Patients with Mayer–Rokitansky–Küster–Hauser Syndrome. J Genit Syst Disor 4:2. doi:10.4172/2325-9728.1000137 |
Abstract
Mutational Analysis of the LHX1 Gene in a French National Cohort of Patients with Mayer-Rokitansky-Küster-Hauser Syndrome
Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome) is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal secondary sexual characteristics development and a normal 46, XX karyotype. MRKH syndrome is a cause of primary amenorrhea with an incidence of approximately 1 in 5,000 newborn girls. Most cases of MRKH syndrome are sporadic, but some familial cases have been reported, suggesting a genetic cause. The genetic basis of MRKH syndrome remains largely unknown and seems heterogeneous. The LHX1 gene has been suggested to be a strong candidate, because (i) inactivation of the ortholog gene (Lim1) in the mouse model causes a Müllerian aplasia, and (ii) it is located in the chromosomal region 17q12, where deletions including this gene have been identified in approximately 5% of MRKH patients. Recently, three relevant heterozygous mutations of the LHX1 gene have been reported in association with the syndrome.
