Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis
作者: Lara PembertonRobert BarkerAnna CockellVijaya RamachandranAndrea HaworthTessa Homfray
作者单位: 1Foundation Programme, University College London Hospital, 235 Euston Road, London, UK
2Department of Radiology, Frimley Park Hospital, Camberly, UK
3Department of Obstetrics, Frimley Park Hospital, Camberly, UK
4Congenica Genome Based Medicine, St George’s University Hospital, London, UK
5Department of Genetics, St George’s University Hospital, London, UK
刊名: BMC Medical Genetics, 2020, Vol.21 (2), pp.394-395
来源数据库: Springer Nature Journal
DOI: 10.1186/s12881-019-0939-z
关键词: Targeted exome sequencingOsteocraniostenosisPrenatal diagnosis
英文摘要: Abstract(#br)Background(#br)Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. Case presentation(#br)In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding...
全文获取路径: Springer Nature  (合作)
影响因子:2.536 (2012)