ArticleJournal of molecular endocrinology2015
Truncation of POC1A associated with short stature and extreme insulin resistance.
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Article in Journal of molecular endocrinology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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15citing papers in PubMed, 1 pooled it
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome.Reviews in endocrine & metabolic disorders · 2024Pooled it
- Centriolar Protein POC5 Regulates Human Adipogenesis and Cellular Senescence: Insights From a Novel Metabolic Ciliopathy.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- LIMK2 promotes centrosome clustering and cancer progression by activating MST4-mediated phosphorylation of NPM1.Oncogene · 2025Article
- Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes.Diabetologia · 2022Review
- Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.European journal of endocrinology · 2022Observational
- Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report.BMC medical genomics · 2021Article
- Further phenotypic features and two novelMolecular medicine reports · 2021Article
- Human pluripotent stem cell-based models suggest preadipocyte senescence as a possible cause of metabolic complications of Werner and Bloom Syndromes.Scientific reports · 2020Article
- A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients.Journal of human genetics · 2020Article
- Perspective: Potential Impact and Therapeutic Implications of Oncogenic PI3K Activation on Chromosomal Instability.Biomolecules · 2019Review
- ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.Journal of molecular medicine (Berlin, Germany) · 2019Review
- SOFT Syndrome: The First Case in Iran.Advanced biomedical research · 2018Article
- DNA-Methylation and Body Composition in Preschool Children: Epigenome-Wide-Analysis in the European Childhood Obesity Project (CHOP)-Study.Scientific reports · 2017Article
- Tetrahymena Poc1 ensures proper intertriplet microtubule linkages to maintain basal body integrity.Molecular biology of the cell · 2016Article
- SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.Journal of human genetics · 2016Review
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Authors and funding
11 authors at 2 institutions in 1 country.
Jian-Hua ChenThe University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK.
Maria SegniThe University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK.
Felicity PayneThe University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK.
Isabel Huang-DoranThe University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK.
Alison SleighThe University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK.
Claire AdamsThe University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK.
UK10K Consortium
David B SavageThe University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK.
Stephen O'RahillyThe University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK.
Robert K SempleThe University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK rks16@cam.ac.uk ib1@sanger.ac.uk.
Inês BarrosoThe University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK rks16@cam.ac.uk ib1@sanger.ac.uk.
National Institute for Health Research · GBWellcome/MRC Institute of Metabolic Science · GB
Funding
Comprehensive Sequencing and Analysis of Variation in NHLBI CohortsUC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2010 to 2010
$14.7MNorthwest Genomics CenterUC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2010 to 2010
$14.0MNorthwest Genomics CenterRC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2009 to 2009
$11.0MComprehensive Sequencing and Analysis of Variation in NHLBI CohortsRC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2009 to 2009
$10.2MARRA - NHLBI Lung Cohorts Sequencing ProjectRC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2009 to 2009
$2.6MARRA - NHLBI Lung Cohorts Sequencing ProjectUC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2010 to 2010
$2.6MWHI Sequencing Project (WHISP)UC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2010 to 2010
$2.4MWHI Sequencing Project (WHISP)RC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2009 to 2009
$2.1MHuman Exome Sequencing in Six Well-Phenotyped NHLBI CohortsUC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2010 to 2010
$1.5MHuman Exome Sequencing in Six Well-Phenotyped NHLBI CohortsRC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2009 to 2009
$817kMedical Research Council G0701532Medical Research Council MC_UU_12012/5NHLBI NIH HHS RC2 HL102923NHLBI NIH HHS RC2 HL102924NHLBI NIH HHS RC2 HL102925NHLBI NIH HHS RC2 HL102926NHLBI NIH HHS RC2 HL103010NHLBI NIH HHS UC2 HL102923NHLBI NIH HHS UC2 HL102924NHLBI NIH HHS UC2 HL102925NHLBI NIH HHS UC2 HL102926NHLBI NIH HHS UC2 HL103010Wellcome Trust 091551Wellcome Trust 095515Wellcome Trust 096599Wellcome Trust 098498Wellcome Trust 100574Wellcome Trust WT091310Wellcome Trust WT098051
Abstract
We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three protein products of the gene. POC1A encodes a protein associated with centrioles throughout the cell cycle and implicated in both mitotic spindle and primary ciliary function. Three homozygous mutations affecting all isoforms of POC1A have recently been implicated in a similar syndrome of primordial dwarfism, although no detailed metabolic phenotypes were described. Primary cells from the proband we describe exhibited increased centrosome amplification and multipolar spindle formation during mitosis, but showed normal DNA content, arguing against mitotic skipping, cleavage failure or cell fusion. Despite evidence of increased DNA damage in cells with supernumerary centrosomes, no aneuploidy was detected. Extensive centrosome clustering both at mitotic spindles and in primary cilia mitigated the consequences of centrosome amplification, and primary ciliary formation was normal. Although further metabolic studies of patients with POC1A mutations are warranted, we suggest that POC1A may be added to ALMS1 and PCNT as examples of centrosomal or pericentriolar proteins whose dysfunction leads to extreme dyslipidaemic insulin resistance. Further investigation of links between these molecular defects and adipose tissue dysfunction is likely to yield insights into mechanisms of adipose tissue maintenance and regeneration that are critical to metabolic health.
Indexed as
AdultAmino Acid SequenceBody HeightCell CycleCell Cycle ProteinsCentriolesCentrosomeCytoskeletal ProteinsDwarfismFaciesFatty LiverFemaleFrameshift MutationHumansInsulin ResistanceMitosisCell Cycle ProteinsCytoskeletal ProteinsPOC1A protein, humanProtein IsoformsProteinscentriolecentrosomediabetesdyslipidaemiainsulin resistancePOC1Aprimary ciliumshort statureskeletal dysplasia
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