Peer-reviewed · Children · 2024
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature
The paper reports a family with recurrent neonatal deaths in which a novel complex SBDS and WFS1 genotype was detected, and reviews the literature on Shwachman Diamond Syndrome. The review of fatal cases and complex genotypes found rare cases, some with unexpected genetic and clinical findings.
Veltra et al.
The paper reports a family with recurrent neonatal deaths in which a novel complex SBDS and WFS1 genotype was detected, and reviews the literature on Shwachman Diamond Syndrome. The review of fatal cases and complex genotypes found rare cases, some with unexpected genetic and clinical findings.
Dante Labs’ involvement
Dante Labs carried out the parental whole exome sequencing (WES) for this study. Sequencing was performed at our New York laboratory (New York, NY, USA) on an Illumina sequencer with the BGI exome kit V459M (BGI, Yantian District, Shenzhen, China); the paper does not report coverage or read lengths. The .vcf files from this sequencing were subsequently re-analysed by a second genetics laboratory in Greece, so Dante Labs' contribution as described in the paper is the WES itself.
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