Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
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:BACKGROUNDThe 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 RESULTSBy 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.CONCLUSIONSWe conclude that heterozygous mutations of LHX1 might be one cause of the MRKH syndrome in a subgroup of patients.
Document Type: Research article
Publication date: 2012-09-03
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