Journal of Genital System & DisordersISSN: 2325-9728

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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: [email protected]–rennes1.fr, [email protected]–rennes1.fr, [email protected]–rennes.fr, [email protected]–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.

Keywords: LHX1 Gene; Mayer-Rokitansky-Küster-Hauser syndrome; Müllerian aplasia; Genetic disease; Congenital malformation; Mutational analysis

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