ORCID Profile
0000-0002-7442-3749
Current Organisation
Hypersonix Launch Systems
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Publisher: Springer Science and Business Media LLC
Date: 15-05-2021
Publisher: Elsevier BV
Date: 12-2019
Publisher: Elsevier BV
Date: 2017
Publisher: American Chemical Society (ACS)
Date: 14-02-2017
Publisher: Springer Science and Business Media LLC
Date: 07-2021
Publisher: Springer Science and Business Media LLC
Date: 06-2021
DOI: 10.1038/S41431-021-00851-8
Abstract: TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been associated with spinal muscular atrophy with bone fractures as well as a severe form of congenital muscular dystrophy. Here we present the diagnostic journey of a patient with cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures. Initial exome sequencing analysis revealed no candidate variants. Reanalysis of the exome data by inclusion in the Solve-RD project resulted in the identification of a homozygous stop-gain variant in the TRIP4 gene, previously reported as disease-causing. This highlights the importance of analysis reiteration and improved and updated bioinformatic pipelines. Proteomic profile of the patient’s fibroblasts showed altered RNA-processing and impaired exosome activity supporting the pathogenicity of the detected variant. In addition, we identified a novel genetic form of PCH1, further strengthening the link of this characteristic phenotype with altered RNA metabolism.
Publisher: American Institute of Aeronautics and Astronautics
Date: 10-03-2020
DOI: 10.2514/6.2020-2435
Publisher: MyJove Corporation
Date: 19-02-2018
DOI: 10.3791/56965
Publisher: Research Publishing Services
Date: 2019
No related grants have been discovered for Ryan Whitside.