LHX1 mutation screening in 96 patients with müllerian duct abnormalities.
OBJECTIVE
To investigate whether LHX1 gene mutations exist in Han Chinese patients with müllerian duct abnormalities (MDAs).


METHODS
Mutation screening.


METHODS
University hospital.


METHODS
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.


METHODS
Gene sequencing.


METHODS
Karyotype, LHX1 gene sequencing.


RESULTS
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).


CONCLUSIONS
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.
Center for Reproductive Medicine, Provincial Hospital Affiliated with Shandong University, Jinan, People's Republic of China.
Mingdi
M
Xia
Han
H
Zhao
Yingying
Y
Qin
Yulan
Y
Mu
Jia
J
Wang
Yuehong
Y
Bian
Jinlong
J
Ma
Zi-Jiang
ZJ
Chen
D000328:Adult; D016022:Case-Control Studies; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006785:Hospitals, University; D006801:Humans; D007621:Karyotyping; D060850:LIM-Homeodomain Proteins / Q000235:genetics*; D009095:Mullerian Ducts / Q000002:abnormalities*; D009154:Mutation; D011110:Polymorphism, Genetic; D014157:Transcription Factors / Q000235:genetics*; D014564:Urogenital Abnormalities / Q000235:genetics*; D055815:Young Adult
C085473:LHX1 protein, human; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors