LHX1 mutation screening in 96 patients with müllerian duct abnormalities

Capsule:
We sequenced LHX1 and identified a novel variation, c.1070–1081del, in 1 of 77 incomplete m€ullerian fusion patients and 1 of 105 control individuals from a Han Chinese population.

Authors:
Mingdi Xia, M.Sc., Han Zhao, M.D., Ph.D., Yingying Qin, M.D., Ph.D., Yulan Mu, M.D., Ph.D., Jia Wang, M.D., Ph.D., Yuehong Bian, Ph.D., Jinlong Ma, M.D., Ph.D., Zi-Jiang Chen, M.D., Ph.D.
Volume 97, Issue 3 , Pages 682-685, March 2012

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.

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