PAX2 in 192 Chinese women with Müllerian duct abnormalities: mutation analysis.
The paired box gene 2 (PAX2) has been proven to be a crucial gene during organogenesis of the urogenital system in mice models. This study was aimed to explore the relationship between PAX2 mutations and human Müllerian duct abnormalities (MDA). A total of 192 Chinese MDA patients (15 cases of uterine aplasia and 177 of incomplete Müllerian fusion) and 192 ethnic-matched controls were recruited from 2009 to 2011. Coding regions of PAX2 of MDA cases were amplified and sequenced. One rare novel synonymous variant (c.320G>A) was discovered in one patient with uterus didelphys, whereas this variant was not found in the control group. Mutations in PAX2 may be not a common cause of MDA.
Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, People's Republic of China.
Peng
P
Wang
Han
H
Zhao
Mei
M
Sun
Yuan
Y
Li
Zi-Jiang
ZJ
Chen
D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009095:Mullerian Ducts / Q000002:abnormalities*; D051762:PAX2 Transcription Factor / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D011247:Pregnancy
D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human