Natalie, B., Michael, S. and Meena, B. (2022) Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD : case report and literature review. European Journal of Medical Genetics, 65 (4). 104470. ISSN 1769-7212
Abstract
Diaphonospondylodysotosis (DSD) and ischiospinal dysostosis (ISD) are rare skeletal dysplasias with variants in the bone morphogenetic protein-binding endothelial regulator (BMPER). There is a continuum of clinical presentation, with DSD at the severe end of the spectrum whilst ISD is towards the milder end. Both are caused due to pathogenic variants in BMPER. Previous studies have reported 20 patients from 13 families. Common features in the cohort reported so far are spinal and rib anomalies but other findings illustrate phenotypic variation. Survival ranges from death within the neonatal period to alive and well at 19 years. We present three siblings with variable phenotype, adding to the evidence for a single definition of BMPER-related skeletal dysplasia. We highlight the need for ongoing care planning and guarded prognostication, with regular review by clinical teams.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2022 Published by Elsevier Masson SAS. This is an author produced version of a paper subsequently published in European Journal of Medical Genetics. Uploaded in accordance with the publisher's self-archiving policy. Article available under the terms of the CC-BY-NC-ND licence (https://creativecommons.org/licenses/by-nc-nd/4.0/). |
Keywords: | Phenotype; Genetic Association Studies; Genomic Structural Variation; Bone Diseases, Developmental; Advanced Care Planning |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 09 Mar 2022 07:47 |
Last Modified: | 28 Feb 2023 01:13 |
Status: | Published |
Publisher: | Elsevier BV |
Refereed: | Yes |
Identification Number: | 10.1016/j.ejmg.2022.104470 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:184528 |
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