Authors: Ledig, S.; Brucker, S.; Barresi, G.; Schomburg, J.; Rall, K.; Wieacker, P.

Source: Human Reproduction, Volume 27, Number 9, 3 September 2012 , pp. 2872-2875(4)

Publisher: Oxford University Press

Abstract:

BACKGROUND

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women who usually have normal ovaries and a 46, XX karyotype. MRKH can occur as an isolated form (type I) or in combination with various malformations as a syndromic or a type II MRKH. To date, in most of the cases the underlying etiology remains unclear. Recently, in approximately 6% of MRKH patients, deletions of chromosomal region 17q12 have been identified. The LHX1 gene, which is located in the deletion interval, has been suggested to be a strong candidate, because targeting inactivation of LHX1 causes a complex phenotype including aplasia of the Müllerian ducts.

METHODS AND RESULTS

By sequence analysis of LHX1 in a large cohort of MRKH patients, we detected a heterozygous frame shift mutation resulting in a premature stop codon. Previously, we have reported a heterozygous missense mutation of LHX1 in another MRKH patient.

CONCLUSIONS

We conclude that heterozygous mutations of LHX1 might be one cause of the MRKH syndrome in a subgroup of patients.

Keywords: Mayer-Rokitansky-Küster-Hauser syndrome; deletion 17q12; LHX1; HNF1B

Document Type: Research article

DOI: http://dx.doi.org/10.1093/humrep/des206

Publication date: 2012-09-03

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• Human Reproduction features full-length, peer-reviewed papers reporting original research, clinical case histories, as well as opinions and debates on topical issues. Papers published cover the scientific and medical aspects of reproductive physiology and pathology, endocrinology, andrology, gonad function, gametogenesis, fertilization, embryo development, implantation, pregnancy, genetics, genetic diagnosis, oncology, infectious disease, surgery, contraception, infertility treatment, psychology, ethics and social issues. The highest scientific and editorial standard is maintained throughout the journal along with a rapid rate of publication.

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• In this Subject: Anatomy & Physiology ,  Obstetrics & Gynecology
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