LHX1 mutation screening in 96 patients with müllerian duct abnormalities

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.

Upvote 0 Comment


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



To investigate whether LHX1 gene mutations exist in Han Chinese patients with müllerian duct abnormalities (MDAs).


Mutation screening.


University hospital.


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.


Gene sequencing.

Main Outcome Measure(s):

Karyotype, LHX1 gene sequencing.


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).

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.

Read the full text at: http://www.fertstert.org/article/S0015-0282(11)02857-3/fulltext

Go to the profile of Fertility and Sterility

Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

No comments yet.