A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome

Francisco Bustos; Carmen Espejo-Serrano; Anna Segarra-Fas; Alison J. Eaton; Kristin D. Kernohan; Meredith J. Wilson; Lisa G. Riley; Greg M. Findlay

doi:10.1101/2020.12.09.417873

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A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome

Francisco Bustos, Carmen Espejo-Serrano, Anna Segarra-Fas, Alison J. Eaton, Kristin D. Kernohan, Meredith J. Wilson, Lisa G. Riley, View ORCID ProfileGreg M. Findlay

doi: https://doi.org/10.1101/2020.12.09.417873

Francisco Bustos

1MRC Protein Phosphorylation & Ubiquitylation Unit, University of Dundee, Dundee, UK

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Carmen Espejo-Serrano

1MRC Protein Phosphorylation & Ubiquitylation Unit, University of Dundee, Dundee, UK

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Anna Segarra-Fas

1MRC Protein Phosphorylation & Ubiquitylation Unit, University of Dundee, Dundee, UK

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Alison J. Eaton

2Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada

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Kristin D. Kernohan

3Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa, Canada

4Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada

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Meredith J. Wilson

5Department of Clinical Genetics, The Children’s Hospital at Westmead, Sydney, Australia

6Discipline of Genomic Medicine, University of Sydney, Sydney, Australia

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Lisa G. Riley

7Rare Diseases Functional Genomics, Kids Research, The Children’s Hospital at Westmead and The Children’s Medical Research Institute, Sydney, Australia

8Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia

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For correspondence: lisa.riley@health.nsw.gov.au g.m.findlay@dundee.ac.uk

Greg M. Findlay

1MRC Protein Phosphorylation & Ubiquitylation Unit, University of Dundee, Dundee, UK

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ORCID record for Greg M. Findlay
For correspondence: lisa.riley@health.nsw.gov.au g.m.findlay@dundee.ac.uk

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A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome

Francisco Bustos, Carmen Espejo-Serrano, Anna Segarra-Fas, Alison J. Eaton, Kristin D. Kernohan, Meredith J. Wilson, Lisa G. Riley, Greg M. Findlay

bioRxiv 2020.12.09.417873; doi: https://doi.org/10.1101/2020.12.09.417873

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A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome

Francisco Bustos, Carmen Espejo-Serrano, Anna Segarra-Fas, Alison J. Eaton, Kristin D. Kernohan, Meredith J. Wilson, Lisa G. Riley, Greg M. Findlay

bioRxiv 2020.12.09.417873; doi: https://doi.org/10.1101/2020.12.09.417873

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