A novel mutation of HOXA10 in a Chinese woman with a Mullerian duct anomaly.
نویسندگان
چکیده
BACKGROUND Müllerian duct anomalies consist of a set of congenital structural malformations that occur when the Müllerian ducts do not develop properly during embryonic life. Their molecular genetic basis is poorly understood. METHODS In this study, we conducted mutation analysis of the HOXA10 gene in a cohort of 109 Chinese women with Müllerian duct anomalies. RESULTS We identified a novel mutation (Y57C) in one patient with a didelphic uterus. The mutation affected the transcriptional regulation capacity of HOXA10. CONCLUSIONS Our study showed that mutation of HOXA10 gene may contribute to the development of Müllerian duct anomalies and confirmed that HOXA10 is an important transcription factor in reproductive tract development.
منابع مشابه
گزارش یک مورد ناهنجاری تکاملی یکطرفه مجرای مولر
Developmental defect of Mullerian duct is a congenital malformation characterized by anomalies in famale upper genital organs. As the anomaly is associated with obstruction of the duct, other congenital anomalies of urinary tract specially ipsilateral ranal agenesis are common. This anomaly is often discovered in adolescent period and is usually asymptomatic until puberty. To discover this anom...
متن کاملحاملگی با IUD در خانم دارای رحم دو شاخ کامل
Biconuate uterin is a congenital anomaly of the mullerian duct that can be associated with many complications. A 34-year-old woman was admitted because of having labor pain. She was using an IUD contraceptive device that was not successful in her case. Because of Breech malpresentation and a previous cesarean section, she was scheduled for cesarean section. During the surgery, the presence of t...
متن کاملAn Exceptional Occurrence of Uterus Mullerian Adenosarcoma in a Young Iranian Woman
Uterus mullerian adenosarcoma is a very rare malignancy. The clinical and Ultra Sonographic findings are not exclusive and the histomorphologic diagnosis of low-grade adenosarcomas is not straightforward. Herein, we present a young Iranian woman with menometrorrhagia due to exceptional occurrence of uterus Mullerian adenosarcoma. A 24-year-old woman, with menometrorrhagia was referred. Imaging...
متن کاملگزارش یک مورد نادر بیماری مادرزادی: Persistent Mullerian Duct Syndrome (PMDS) در یک آقای 71 ساله
Persistent Mullerian Duct Syndrome in a 71-Year-Old Man, Case Report H. Salehi MD , M.R. Vatani Baf MD Received:27/06/06 Sent for Revision: 11/10/06 Received Revised Manuscript: 07/02/07 Accepted: 12/02/07 Background and Objective: Normal sexual differentiation occurs in the 6th embryonic week and in a normal embryonic life. Both wolffian and mullerian ducts are present until the onse...
متن کاملAssociation between HOXA10 (rs267601473) polymorphism and recurrent spontaneous abortion
Introduction: Recurrent spontaneous abortion is defined as the occurrence of more than two clinical miscarriages in one woman. Several factors, including endocrine irregularities, genetics and environmental factors, are involved in this kind of infertility.The aim of this study was to survey the association of HOXA10 (rs267601473) polymorphism with the risk of recurrent spontaneous abortion in ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Human reproduction
دوره 26 11 شماره
صفحات -
تاریخ انتشار 2011