Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence
نویسندگان
چکیده
منابع مشابه
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome
INTRODUCTION Foetal akinesia deformation sequence syndrome (FADS) is a genetically heterogeneous disorder characterised by the combination of foetal akinesia and developmental defects which may include pterygia (joint webbing). Traditionally multiple pterygium syndrome (MPS) has been divided into two forms: prenatally lethal (LMPS) and non-lethal Escobar type (EVMPS) types. Interestingly, FADS,...
متن کاملThree-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence.
OBJECTIVE To present the appearance of the fetal akinesia deformation sequence by three-dimensional ultrasonography after four-dimensional ultrasonographic scanning. METHODS Three-dimensional surface-rendering images were used to show the fixed postural abnormalities of the fetal extremities and body. Four-dimensional ultrasonography was used to show that the postural abnormalities were fixed...
متن کاملFetal akinesia deformation sequence: a case report and review of literature
Fetal Akinesia Deformation Sequence (FADS) is a condition characterised by decreased fetal movement (fetal akinesia), multiple joint contractures (arthrogryposis), facial anomalies, intrauterine growth restriction, pulmonary hypoplasia and other developmental abnormalities. These disorders are clinically and genetically heterogenous and its etiology remains unclear. This syndrome is rare and th...
متن کاملBiallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.
The WD40-containing E3 ubiquitin ligase RFWD3 has been recently linked to the repair of DNA damage by homologous recombination (HR). Here we have shown that an RFWD3 mutation within the WD40 domain is connected to the genetic disease Fanconi anemia (FA). An individual presented with congenital abnormalities characteristic of FA. Cells from the patient carrying the compound heterozygous mutation...
متن کاملThe nucleoporin Nup88 is interacting with nuclear lamin A
Nuclear pore complexes (NPCs) are embedded in the nuclear envelope (NE) and mediate bidirectional nucleocytoplasmic transport. Their spatial distribution in the NE is organized by the nuclear lamina, a meshwork of nuclear intermediate filament proteins. Major constituents of the nuclear lamina are A- and B-type lamins. In this work we show that the nuclear pore protein Nup88 binds lamin A in vi...
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: PLOS Genetics
سال: 2018
ISSN: 1553-7404
DOI: 10.1371/journal.pgen.1007845