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Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.

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

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Abstract

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.

Item Type: Article
Additional Information: © The Author(s). 2020 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
Keywords: Osteocraniostenosis, Prenatal diagnosis, Targeted exome sequencing, Osteocraniostenosis, Prenatal diagnosis, Targeted exome sequencing, 0604 Genetics, 1103 Clinical Sciences, Genetics & Heredity
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Journal or Publication Title: BMC Med Genet
ISSN: 1471-2350
Language: eng
Dates:
DateEvent
7 January 2020Published
23 December 2019Accepted
Publisher License: Creative Commons: Attribution 4.0
PubMed ID: 31910817
Go to PubMed abstract
URI: http://openaccess.sgul.ac.uk/id/eprint/111712
Publisher's version: https://doi.org/10.1186/s12881-019-0939-z

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