| Title: |
Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis. |
| Authors: |
Pemberton, L; Barker, R; Cockell, A; Ramachandran, V; Haworth, A; Homfray, T |
| Publisher Information: |
BMC |
| Publication Year: |
2020 |
| Collection: |
St George's University of London: Repository |
| Description: |
BACKGROUND: 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: 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 ongoing pregnancy management. CONCLUSIONS: This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| ISSN: |
1471-2350 |
| Relation: |
https://openaccess.sgul.ac.uk/id/eprint/111712/1/document.pdf; Pemberton, L; Barker, R; Cockell, A; Ramachandran, V; Haworth, A; Homfray, T (2020) Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis. BMC Med Genet, 21 (1). p. 7. ISSN 1471-2350 https://doi.org/10.1186/s12881-019-0939-z SGUL Authors: Haworth, Andrea |
| Availability: |
https://openaccess.sgul.ac.uk/id/eprint/111712/; https://openaccess.sgul.ac.uk/id/eprint/111712/1/document.pdf |
| Rights: |
cc_by_4 |
| Accession Number: |
edsbas.97C208EE |
| Database: |
BASE |