LHX1 mutation screening in 96 patients with müllerian duct abnormalities.

ABSTRACT

OBJECTIVE: To investigate whether LHX1 gene mutations exist in Han Chinese patients with müllerian duct abnormalities (MDAs). DESIGN: Mutation screening. SETTING: University hospital. PATIENT(S) Ninety-six MDA patients and 105 control subjects from a Han Chinese population. The parents of the patients carrying the genetic variation were also screened. INTERVENTION(S) Gene sequencing. MAIN OUTCOME MEASURE(S) Karyotype, LHX1 gene sequencing. RESULT(S) We found no significant mutation in coding regions of LHX1. However, there is a new rare polymorphism of LHX1 gene, c.1070-1081del, found in 1 out of 77 incomplete müllerian fusion patients and 1 out of 105 control individuals in the Han Chinese population (thus affecting ∼1% of Han Chinese). CONCLUSION(S) No causative perturbation was identified in the LHX1 gene. Mutations in the coding regions of LHX1 may not be a common genetic etiologic factor involved in Han Chinese MDA patients.