Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome


Submitted: 1 April 2021
Accepted: 30 April 2021
Published: 12 May 2021
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Authors

  • Daniela Tavian Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, Milan, Italy; Department of Psychology, Università Cattolica del Sacro Cuore, Milan, Italy.
  • Murat Durdu Baskent University Faculty of Medicine, Department of Dermatology, Adana Hospital, Adana, Turkey.
  • Corrado Angelini Neuromuscular Laboratory, Department of Neurosciences, University of Padova, Campus Biomedico Pietro d’Abano, Padua, Italy.
  • Enza Torre Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, Milan, Italy; Department of Psychology, Università Cattolica del Sacro Cuore, Milan, Italy.
  • Sara Missaglia Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, Milan, Italy; Department of Psychology, Università Cattolica del Sacro Cuore, Milan, Italy.

ABHD5 protein is widely involved in lipid and energy homeostasis. Mutations in the ABHD5 gene are associated with the onset of Neutral Lipid Storage Disease with Ichthyosis (NLSDI), historically known as Chanarin Dorfman Syndrome (CDS). CDS is a rare autosomal recessive lipid storage disease, characterized by non-bullous congenital ichthyosiform eritrhoderma (NCIE), hepatomegaly and liver steatosis. Myopathy, neurosensory hearing loss, cataracts, nystagmus, strabismus, and mental impairment are considered additional findings. To date, 151 CDS patients have been reported all over the world. Here we described two additional families with patients affected by CDS from Turkey. Our patients were a 42 and 22-years old men, admitted to the Hospital for congenital ichthyosis. Hepatic steatosis and myopathy were also detected in both patients. ABHD5 molecular analysis revealed the presence of N209* mutation. Our data enlarge the cohort of CDS patients and provide a revision of muscle clinical findings for this rare inborn error of neutral lipid metabolism.


Missaglia S, Coleman RA, Mordente A, Tavian D. Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function. Cells. 2019 Feb 21;8(2):187. DOI: https://doi.org/10.3390/cells8020187

Dorfman ML, Hershko C, Eisenberg S, Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol. 1974 Aug;110(2):261-6. DOI: https://doi.org/10.1001/archderm.110.2.261

Chanarin I, Patel A, Slavin G, Wills EJ, Andrews TM, Stewart G. Neutral-lipid storage disease: a new disorder of lipid metabolism. Br Med J. 1975 Mar 8;1(5957):553-5. DOI: https://doi.org/10.1136/bmj.1.5957.553

Pennisi EM, Arca M, Bertini E, Bruno C, Cassandrini D, D'amico A, Garibaldi M, Gragnani F, Maggi L, Massa R, Missaglia S, Morandi L, Musumeci O, Pegoraro E, Rastelli E, Santorelli FM, Tasca E, Tavian D, Toscano A, Angelini C; Italian NLSD Group. Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients. Orphanet J Rare Dis. 2017 May 12;12(1):90. DOI: https://doi.org/10.1186/s13023-017-0646-9

Durdu M, Missaglia S, Moro L, Tavian D. Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents. BMC Med Genet. 2018 May 29;19(1):88. DOI: https://doi.org/10.1186/s12881-018-0610-0

Ronchetti A, Prati D, Pezzotta MG, Tavian D, Colombo R, Callea F, Colli A. Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation. J Hepatol. 2008 Sep;49(3):474-7. DOI: https://doi.org/10.1016/j.jhep.2008.05.027

Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D. Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene. Orphanet J Rare Dis. 2010 Dec 1;5:33. Erratum in: Orphanet J Rare Dis. 2011 Feb 21;6(1):6. DOI: https://doi.org/10.1186/1750-1172-5-33

Tavian D, Colombo R. Improved cytochemical method for detecting Jordans' bodies in neutral lipid storage diseases. J Clin Pathol. 2007 Aug;60(8):956-8. DOI: https://doi.org/10.1136/jcp.2006.044917

Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet. 2001 Nov;69(5):1002-12. DOI: https://doi.org/10.1086/324121

Lass A, Zimmermann R, Haemmerle G, Riederer M, Schoiswohl G, Schweiger M, Kienesberger P, Strauss JG, Gorkiewicz G, Zechner R. Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome. Cell Metab. 2006 May;3(5):309-19. DOI: https://doi.org/10.1016/j.cmet.2006.03.005

Cakmak E, Alagozlu H, Yonem O, Ataseven H, Citli S, Ozer H. Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation. Clin Res Hepatol Gastroenterol. 2012 Apr;36(2):e34-7. DOI: https://doi.org/10.1016/j.clinre.2011.12.007

Louhichi N, Bahloul E, Marrakchi S, Othman HB, Triki C, Aloulou K, Trabelsi L, Mahfouth N, Ayadi-Mnif Z, Keskes L, Fakhfakh F, Turki H. Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene. Orphanet J Rare Dis. 2019 May 22;14(1):112. DOI: https://doi.org/10.1186/s13023-019-1095-4

Nur BG, Gencpinar P, Yuzbasıoglu A, Emre SD, Mihci E. Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation. Eur J Med Genet. 2015 Apr;58(4):238-42. DOI: https://doi.org/10.1016/j.ejmg.2015.01.011

Ujihara M, Nakajima K, Yamamoto M, Teraishi M, Uchida Y, Akiyama M, Shimizu H, Sano S. Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome. J Dermatol Sci. 2010 Feb;57(2):102-7. DOI: https://doi.org/10.1016/j.jdermsci.2009.10.016

Takeichi T, Sugiura K, Tso S, Simpson MA, McGrath JA, Akiyama M. Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome. J Dermatol Sci. 2016 Feb;81(2):134-6. DOI: https://doi.org/10.1016/j.jdermsci.2015.10.015

Aggarwal S, Maras JS, Alam S, Khanna R, Gupta SK, Ahuja A. Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation. Eur J Med Genet. 2012 Mar;55(3):173-7. DOI: https://doi.org/10.1016/j.ejmg.2012.01.013

Gupta N, Gothwal S, Satpathy AK, Missaglia S, Tavian D, Das P, Timila D, Kabra M. Chanarin Dorfman syndrome: a case report with novel nonsense mutation. Gene. 2016 Jan 10;575(2 Pt 1):359-62. DOI: https://doi.org/10.1016/j.gene.2015.09.004

Missaglia S, Valadares ER, Moro L, Faguntes ED, Quintão Roque R, Giardina B, Tavian D. Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter. BMC Med Genet. 2014 Mar 14;15:32. DOI: https://doi.org/10.1186/1471-2350-15-32

Eskiocak AH, Missaglia S, Moro L, Durdu M, Tavian D. A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings. Lipids Health Dis. 2019 Dec 28;18(1):232. DOI: https://doi.org/10.1186/s12944-019-1181-6

Israeli S, Pessach Y, Sarig O, Goldberg I, Sprecher E. Beneficial effect of acitretin in Chanarin-Dorfman syndrome. Clin Exp Dermatol. 2012 Jan;37(1):31-3. DOI: https://doi.org/10.1111/j.1365-2230.2011.04164.x

Sarkar R, Chugh S, Garg VK. Acitretin in dermatology. Indian J Dermatol Venereol Leprol. 2013 Nov-Dec;79(6):759-71. DOI: https://doi.org/10.4103/0378-6323.120721

Srinivasaraghavan R, Krishnamurthy S, Chandar R, Cassandrini D, Mahadevan S, Bruno C, Santorelli FM. Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene. Pediatr Dermatol. 2014 Sep-Oct;31(5):612-4. DOI: https://doi.org/10.1111/pde.12170

Karamyshev AL, Karamysheva ZN. Lost in Translation: Ribosome-Associated mRNA and Protein Quality Controls. Front Genet. 2018 Oct 4;9:431. DOI: https://doi.org/10.3389/fgene.2018.00431

Schweiger M, Lass A, Zimmermann R, Eichmann TO, Zechner R. Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. Am J Physiol Endocrinol Metab. 2009 Aug;297(2):E289-96. DOI: https://doi.org/10.1152/ajpendo.00099.2009

T Tavian D, Missaglia S, Redaelli C, Pennisi EM, Invernici G, Wessalowski R, Maiwald R, Arca M, Coleman RA. Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function. Hum Mol Genet. 2012 Dec 15;21(24):5318-28. DOI: https://doi.org/10.1093/hmg/dds388

Angelini C, Pennisi E, Missaglia S, Tavian D. Metabolic lipid muscle disorders: biomarkers and treatment. Ther Adv Neurol Disord. 2019 Apr 22;12:1756286419843359. DOI: https://doi.org/10.1177/1756286419843359

Tavian, D., Durdu, M., Angelini, C., Torre, E., & Missaglia, S. (2021). Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome. European Journal of Translational Myology, 31(2). https://doi.org/10.4081/ejtm.2021.9796

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