Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome) View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-04-03

AUTHORS

Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, Päivi Vieira, Naemeh Nayebzadeh, Simone Weiss, Astrid S. Plomp, Reginald E. Bittner, Mitja I. Kurki, Outi Kuismin, Andrea M. Lewis, Marja-Leena Väisänen, Hannaleena Kokkonen, Jonne Westermann, Günther Bernert, Hannu Tuominen, Aarno Palotie, Lauri Aaltonen, Yaping Yang, Lorraine Potocki, Jukka Moilanen, Silvana van Koningsbruggen, Xia Wang, Wolfgang M. Schmidt, Peppi Koivunen, Johanna Uusimaa

ABSTRACT

PURPOSE: A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing yielded three candidate genes with potentially pathogenic biallelic variants: transketolase (TKT), transmembrane prolyl 4-hydroxylase (P4HTM), and ubiquitin specific peptidase 4 (USP4). However, the causative gene remained elusive. METHODS: International collaboration and exome sequencing were used to identify new patients with HIDEA and biallelic, potentially pathogenic, P4HTM variants. Segregation analysis was performed using Sanger sequencing. P4H-TM wild-type and variant constructs without the transmembrane region were overexpressed in insect cells and analyzed using sodium dodecyl sulfate-polyacrylamide gel electrophoresis and western blot. RESULTS: Five different homozygous or compound heterozygous pathogenic P4HTM gene variants were identified in six new and six previously published patients presenting with HIDEA. Hypoventilation, obstructive and central sleep apnea, and dysautonomia were identified as novel features associated with the phenotype. Characterization of three of the P4H-TM variants demonstrated yielding insoluble protein products and, thus, loss-of-function. CONCLUSIONS: Biallelic loss-of-function P4HTM variants were shown to cause HIDEA syndrome. Our findings enable diagnosis of the condition, and highlight the importance of assessing the need for noninvasive ventilatory support in patients. More... »

PAGES

1-9

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41436-019-0503-4

DOI

http://dx.doi.org/10.1038/s41436-019-0503-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1113179748

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30940925


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    "description": "PURPOSE: A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing yielded three candidate genes with potentially pathogenic biallelic variants: transketolase (TKT), transmembrane prolyl 4-hydroxylase (P4HTM), and ubiquitin specific peptidase 4 (USP4). However, the causative gene remained elusive.\nMETHODS: International collaboration and exome sequencing were used to identify new patients with HIDEA and biallelic, potentially pathogenic, P4HTM variants. Segregation analysis was performed using Sanger sequencing. P4H-TM wild-type and variant constructs without the transmembrane region were overexpressed in insect cells and analyzed using sodium dodecyl sulfate-polyacrylamide gel electrophoresis and western blot.\nRESULTS: Five different homozygous or compound heterozygous pathogenic P4HTM gene variants were identified in six new and six previously published patients presenting with HIDEA. Hypoventilation, obstructive and central sleep apnea, and dysautonomia were identified as novel features associated with the phenotype. Characterization of three of the P4H-TM variants demonstrated yielding insoluble protein products and, thus, loss-of-function.\nCONCLUSIONS: Biallelic loss-of-function P4HTM variants were shown to cause HIDEA syndrome. Our findings enable diagnosis of the condition, and highlight the importance of assessing the need for noninvasive ventilatory support in patients.", 
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HOW TO GET THIS DATA PROGRAMMATICALLY:

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curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s41436-019-0503-4'

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RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41436-019-0503-4'


 

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288 https://www.grid.ac/institutes/grid.22937.3d schema:alternateName Medical University of Vienna
289 schema:name Neuromuscular Research Department, Medical University of Vienna, Centre for Anatomy and Cell Biology, Vienna, Austria
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291 https://www.grid.ac/institutes/grid.32224.35 schema:alternateName Massachusetts General Hospital
292 schema:name Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA
293 Department of Neurology, Massachusetts General Hospital, Boston, MA, USA
294 Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
295 Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
296 The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA
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298 https://www.grid.ac/institutes/grid.39382.33 schema:alternateName Baylor College of Medicine
299 schema:name Baylor Genetics, 77021, Houston, TX, USA
300 Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
301 Texas Children’s Hospital, Houston, TX, USA
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304 schema:name Biocenter Oulu, University of Oulu, Oulu, Finland
305 Department of Children and Adolescents, Division of Paediatric Neurology, Oulu University Hospital, Oulu, Finland
306 Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland
307 Department of Pathology, Oulu University Hospital, Oulu, Finland
308 PEDEGO Research Unit and Medical Research Centre Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland
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311 schema:name Kaiser Franz Josef Hospital with G.v. Preyer Children’s Hospital, Department of Pediatrics, Vienna, Austria
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313 https://www.grid.ac/institutes/grid.7177.6 schema:alternateName University of Amsterdam
314 schema:name Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands
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316 https://www.grid.ac/institutes/grid.7737.4 schema:alternateName University of Helsinki
317 schema:name Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland
318 Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki and Haartman Institute, Helsinki, Finland
319 Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
320 PEDEGO Research Unit and Medical Research Centre Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland
321 Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
322 The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA
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