Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/113309
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Type: Journal article
Title: Application of whole genome sequencing technology in the investigation of genetic causes of fetal, perinatal, and early infant death
Author: Armes, J.
Williams, M.
Price, G.
Wallis, T.
Gallagher, R.
Matsika, A.
Joy, C.
Galea, M.
Gardener, G.
Leach, R.
Swagemakers, S.
Tearle, R.
Stubbs, A.
Harraway, J.
van der Spek, P.
Venter, D.
Citation: Pediatric and Developmental Pathology, 2018; 21(1):54-67
Publisher: Springer Nature
Issue Date: 2018
ISSN: 1093-5266
1615-5742
Statement of
Responsibility: 
Jane E Armes, Mark Williams, Gareth Price, Tristan Wallis, Renee Gallagher, Admire Matsika, Christopher Joy, Melanie Galea, Glenn Gardener, Rick Leach, Sigrid MA Swagemakers, Rick Tearle, Andrew Stubbs, James Harraway, Peter J van der Spek and Deon J Venter
Abstract: Death in the fetal, perinatal, and early infant age-group has a multitude of causes, a proportion of which is presumed to be genetic. Defining a specific genetic aberration leading to the death is problematic at this young age, due to limited phenotype-genotype correlation inherent in the underdeveloped phenotype, the inability to assess certain phenotypic traits after death, and the problems of dealing with rare disorders. In this study, our aim was to increase the yield of identification of a defined genetic cause of an early death. Therefore, we employed whole genome sequencing and bioinformatic filtering techniques as a comprehensive, unbiased genetic investigation into 16 fetal, perinatal, and early infant deaths, which had undergone a full autopsy. A likely genetic cause was identified in two cases (in genes; COL2A1 and RYR1) and a speculative genetic cause in a further six cases (in genes: ARHGAP35, BBS7, CASZ1, CRIM1, DHCR7, HADHB, HAPLN3, HSPG2, MYO18B, and SRGAP2). This investigation indicates that whole genome sequencing is a significantly enabling technology when determining genetic causes of early death.
Keywords: COL2A1; RYR1; fetal death; perinatal death; perlecan; whole genome sequencing
Rights: © 2017, Society for Pediatric Pathology All rights reserved
RMID: 0030080456
DOI: 10.1177/1093526617715528
Appears in Collections:Paediatrics publications

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