A novel FOXP3 mutation causing fetal akinesia and recurrent male miscarriages
نویسندگان
چکیده
منابع مشابه
Fetal gender ratio in recurrent miscarriages
BACKGROUND The purpose of this study was to evaluate the gender ratio and incidence of chromosomal anomalies in the products of conception (POC) from recurrent miscarriages. METHODS We determined the karyotypes of POC from patients with recurrent spontaneous miscarriages between 1999 and 2009. RESULTS In total, 313 specimens were successfully karyotyped, with a median gestational age of 10 ...
متن کاملA Novel Mutation in NLRP7 Related to Recurrent Hyda-tidiform Mole and Reproductive Failure
Objective Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, which is divided into two Complete (CHM) and Partial (PHM) groups. One subcategory of the CHMs is recurrent and familial, which is known as biparental hydatidiform mole (BiHMs) or recurrent hydatidiform mole (RHM). NLRP7 and KHDC3L, two maternal-effect g...
متن کاملWhole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient
Background: Nephronophthisis (NPHP) is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. X-prolyl aminopeptidase 3 (XPNPEP3) mutation is related to NPHP-like 1 nephropathy and late onset NPHP. Methods: The proband (index patient) had polyuria, polyd...
متن کاملRecurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome (BHDS) is a rare form of classically cystic lung disease that may present with spontaneous pneumothorax. The associated skin manifestations (fibrofolliculomas) are not always present. This article describes a case of spontaneous pneumothorax secondary to bullous emphysema in an otherwise healthy gentleman caused by a novel mutation in the folliculin (FLCN) gene.
متن کاملGenetic causes of recurrent miscarriages.
Recurrent miscarriage is an important problem in reproductive health, which affects 1-5% of couples. The aim of this article is to summarize current knowledge on the genetic causes of recurrent miscarriage. It presents the most common parental genetic disorders (karyotype abnormalities, recessive diseases carrier status, dominant diseases and thrombophilia) connected with recurrent pregnancy lo...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Clinical Immunology
سال: 2015
ISSN: 1521-6616
DOI: 10.1016/j.clim.2015.09.006