A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4

Molecular Genetics and Metabolism
Ery Kus DwianingsihMasafumi Matsuo

Abstract

Congenital generalized lipodystrophy (CGL), characterized by generalized absence of adipose tissue, has heterogeneous causes. Recently, a novel type of CGL complicated by muscular dystrophy was categorized as CGL4 caused by PTRF-CAVIN deficiency. However, it is unknown whether CGL4 exhibits clinical abnormalities during the infantile period. Here, we describe the youngest Japanese case of CGL4-a Japanese girl with asymptomatic high serum creatine kinase (CK) levels at 3months old. She was referred to our hospital at 5months of age because of her elevated serum CK (2528IU/L). Generalized absence of adipose tissue was first recognized at 2years of age. Mutation analysis of genes known to be responsible for CGL1-3 failed to disclose any abnormalities. Instead, analysis of the PTRF-CAVIN gene encoding PTRF-CAVIN revealed compound heterozygous mutations, one allele contained an insertion (c.696_697insC) and the other allele harbored a novel nonsense mutation (c.512C>A). Our patient had low serum leptin and adiponectin levels and insulin resistance. Pathological studies on biopsied muscle disclosed mild dystrophic change and highly reduced expression of PTRF-CAVIN. It was concluded that our PTRF-CAVIN deficient patient showed not onl...Continue Reading

References

Mar 21, 2001·Neuromuscular Disorders : NMD·J C ReijneveldJ H Wokke
Jul 13, 2002·American Journal of Medical Genetics·Anna RajabMichael Patton
Aug 3, 2002·European Journal of Endocrinology·Miyao MatsubaraShinji Katayose
Jun 27, 2003·Trends in Endocrinology and Metabolism : TEM·Anil K Agarwal, Abhimanyu Garg
Nov 9, 2004·The Journal of Clinical Endocrinology and Metabolism·Germán IñiguezVerónica Mericq
Jan 18, 2006·Annual Review of Medicine·Anil K Agarwal, Abhimanyu Garg
May 26, 2006·Annual Review of Genomics and Human Genetics·Anil K Agarwal, Abhimanyu Garg
Jan 18, 2007·Proceedings of the National Academy of Sciences of the United States of America·Michelangelo FotiJean-Louis Carpentier
Mar 22, 2007·Journal of Lipid Research·Robert A HegeleBrian K Rutt
Dec 7, 2007·The Journal of Biological Chemistry·Libin Liu, Paul F Pilch
Jan 15, 2008·Cell·Rahul Chadda, Satyajit Mayor
Jan 24, 2009·Biochimica Et Biophysica Acta·Abhimanyu Garg, Anil K Agarwal
Jan 27, 2009·Clinica Chimica Acta; International Journal of Clinical Chemistry·Karina Braga GomesAna Paula Fernandes
May 15, 2009·Pediatrics International : Official Journal of the Japan Pediatric Society·Atsushi NishiyamaMasafumi Matsuo
Jun 6, 2009·Current Opinion in Lipidology·Vinaya Simha, Abhimanyu Garg

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Citations

Jun 1, 2011·Clinical Lipidology·Paul F PilchLibin Liu
Jun 7, 2013·EMBO Molecular Medicine·Natalie KrahmerTobias C Walther
Aug 12, 2014·Cell and Tissue Research·Jin-Yih Low, Helen D Nicholson
Jun 10, 2011·Journal of Lipid Research·Tova MeshulamPaul F Pilch
Sep 13, 2013·BMC Medical Genetics·Anna ArdissoneMarina Mora
Jul 4, 2012·Annales d'endocrinologie·Marie-Christine VantyghemJean-Louis Wémeau
May 23, 2012·Trends in Cell Biology·Pierre Nassoy, Christophe Lamaze
May 20, 2011·Trends in Endocrinology and Metabolism : TEM·Paul F Pilch, Libin Liu
Dec 15, 2015·Trends in Cell Biology·Jade P X Cheng, Benjamin J Nichols
Sep 13, 2016·Adipocyte·Erica L SchellerWilliam P Cawthorn
Aug 5, 2015·Nature Reviews. Endocrinology·Nivedita Patni, Abhimanyu Garg
Mar 12, 2011·The International Journal of Biochemistry & Cell Biology·Corinne VigourouxJacqueline Capeau
Mar 31, 2015·Laboratory Investigation; a Journal of Technical Methods and Pathology·Fiorella FaggiAlessandro Fanzani
Feb 28, 2015·European Journal of Medical Genetics·Musharraf JelaniJumana Yousuf Al-Aama
Jun 9, 2014·Current Opinion in Cell Biology·Elena ShvetsBenjamin James Nichols
Dec 17, 2016·Science China. Life Sciences·Jinhai Yu, Peng Li
Apr 5, 2012·Journal of Lipid Research·Bethany R Cartwright, Joel M Goodman
Jun 1, 2017·Molecular and Cellular Biology·Shui-Rong ZhouQi-Qun Tang
Jan 14, 2018·Nature Communications·Jamie J L WilliamsTimothy M Palmer
May 4, 2011·Endocrine Reviews·Robert K SempleStephen O'Rahilly
Jan 24, 2013·Nature Reviews. Molecular Cell Biology·Robert G Parton, Miguel A del Pozo
Aug 14, 2013·Nature Reviews. Urology·Zeyad D NassarMarie-Odile Parat
Feb 11, 2014·The Journal of Biological Chemistry·Shi-Ying DingPaul F Pilch
May 6, 2020·Expert Review of Endocrinology & Metabolism·Maria C Foss-FreitasElif A Oral
Dec 2, 2010·The Journal of Biological Chemistry·Mafalda CacciottoloVincenzo Nigro
Feb 13, 2019·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Shinji TakeyariKeiichi Ozono
Mar 16, 2017·JCI Insight·Shi-Ying DingPaul F Pilch
Nov 20, 2019·Journal of Clinical Neuromuscular Disease·Josef FinstererCarla A Scorza
Nov 17, 2020·Frontiers in Cell and Developmental Biology·Maria DudãuMihail E Hinescu
Nov 5, 2010·Journal of Cell Science·Michele Bastiani, Robert G Parton

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