Abstract
BackgroundTo investigate the genetic contribution of copy number variations (CNVs) in Wingless-type MMTV integration site family, member 4 (WNT4), in a Chinese population with Müllerian anomalies (MA), copy number analysis of WNT4 by Multiplex ligation‐dependent probe amplification (MLPA) was performed on 248 female patients. Some studies have shown that heterozygous missense mutation of WNT4 can lead to MA. However, few studies on the relationship between WNT4 CNVs and MA have been performed.ResultsAmong the 248 Chinese women affected by MA in this study, heterozygous deletion of WNT4 was detected in a single patient.ConclusionsMLPA identified one heterozygous deletion in WNT4 in a single female patient among 248 Chinese women affected by MA. This study firstly reports CNVs of WNT4 in a large sample of MA patients from the Chinese population, which suggests that CNVs of WNT4 cannot be excluded in the occurrence of MA. This provides a genetic basis for precise treatment in the future.
Highlights
To investigate the genetic contribution of copy number variations (CNVs) in Wingless-type MMTV integration site family, member 4 (WNT4), in a Chinese population with Müllerian anomalies (MA), copy number analysis of WNT4 by Multiplex ligation‐dependent probe amplification (MLPA) was performed on 248 female patients
MLPA results of MA patients One deletion was identified in WNT4 in a single female patient among the 248 Chinese women affected by MA in this study (Fig. 1)
We identified only one heterozygous deletion in WNT4 in a single female patient among 248 Chinese women affected by MA
Summary
To investigate the genetic contribution of copy number variations (CNVs) in Wingless-type MMTV integration site family, member 4 (WNT4), in a Chinese population with Müllerian anomalies (MA), copy number analysis of WNT4 by Multiplex ligation‐dependent probe amplification (MLPA) was performed on 248 female patients. Müllerian anomalies (MA) are among the most common diseases in gynecology and obstetrics They include various malformations of fallopian tubes, vagina, cervix, and corpus uteri [1]. The estimated incidence of MA is 5.5% in the general population, but 24.5% in women with infertility and miscarriage [2, 3] This disease seriously affects women’s reproductive function and causes a huge social burden. Septate uterus is one of the milder symptoms in patients with uterine malformation, and the rate of live births from such patients is about 62.5%. After operation, this rate can be significantly increased [5]
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