title: Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.
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.
  
  
  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.
authors: Institute of Human Genetics, Westfälische Wilhelms-University, Vesaliusweg 12-14, Münster 48149, Germany. wieacker@uni-muenster.de
authors: S
authors: S
authors: Ledig
authors: S
authors: S
authors: Brucker
authors: G
authors: G
authors: Barresi
authors: J
authors: J
authors: Schomburg
authors: K
authors: K
authors: Rall
authors: P
authors: P
authors: Wieacker
mesh_terms: D058489:46, XX Disorders of Sex Development; D000015:Abnormalities, Multiple / Q000235:genetics*; D018388:Codon, Terminator; D015331:Cohort Studies; D000013:Congenital Abnormalities; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D060850:LIM-Homeodomain Proteins / Q000235:genetics*; D009095:Mullerian Ducts / Q000002:abnormalities; D020125:Mutation, Missense; D010641:Phenotype; D019170:Somites / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D014157:Transcription Factors / Q000235:genetics*; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities
chemical_list: D018388:Codon, Terminator; C085473:LHX1 protein, human; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors