Iranian Journal of Pediatrics

Published by: Shiraz University of Medical Sciences

Clinical Diagnosis, Biochemical Findings, Genetics and Incidence of Zellweger Syndrome

Muhittin Celik 1 , * , Mehmet Sah Ipek 2 , Nezir Ozgun 3 , Osman Akdeniz 4 , Heybet Tuzun 1 and Ali Bulbul 5
Authors Information
1 M.D. Diyarbakir Children’s Hospital, Clinic of Neonatology, Diyarbakir, Turkey
2 M.D. Division of Neonatology, Department of Pediatrics, Memorial Hospital, Diyarbakir, Turkey
3 M.D. Diyarbakir Children’s Hospital, Clinic of Pediatric Neurology, Diyarbakir, Turkey
4 M.D. Diyarbakir Children’s Hospital, Clinic of Pediatric Cardiology, Diyarbakir, Turkey
5 Ass. Prof. Sisli Hamideyi Etfal Research Hospital, Clinic of Neonatology, Istanbul, Turkey
Article information
  • Iranian Journal of Pediatrics: February 2018, 28 (1); e58924
  • Published Online: December 19, 2017
  • Article Type: Research Article
  • Received: July 27, 2017
  • Revised: October 6, 2017
  • Accepted: November 16, 2017
  • DOI: 10.5812/ijp.58924

To Cite: Celik M, Sah Ipek M, Ozgun N, Akdeniz O, Tuzun H, et al. Clinical Diagnosis, Biochemical Findings, Genetics and Incidence of Zellweger Syndrome, Iran J Pediatr. 2018 ;28(1):e58924. doi: 10.5812/ijp.58924.

Abstract
Copyright: Copyright © 2018, Iranian Journal of Pediatrics. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Background
2. Methods
3. Results
4. Discussion
References
  • 1. Sun Y, Wang L, Wei X, Zhu Q, Yang Y, Lan Z, et al. Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. Clin Chim Acta. 2013;417:57-61. doi: 10.1016/j.cca.2012.12.005. [PubMed: 23247051].
  • 2. Fujiki Y, Yagita Y, Matsuzaki T. Peroxisome biogenesis disorders: molecular basis for impaired peroxisomal membrane assembly: in metabolic functions and biogenesis of peroxisomes in health and disease. Biochim Biophys Acta. 2012;1822(9):1337-42. doi: 10.1016/j.bbadis.2012.06.004. [PubMed: 22705440].
  • 3. Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, et al. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. Am J Hum Genet. 2015;97(4):535-45. doi: 10.1016/j.ajhg.2015.08.011. [PubMed: 26387595].
  • 4. Salpietro V, Phadke R, Saggar A, Hargreaves IP, Yates R, Fokoloros C, et al. Zellweger syndrome and secondary mitochondrial myopathy. Eur J Pediatr. 2015;174(4):557-63. doi: 10.1007/s00431-014-2431-2. [PubMed: 25287621].
  • 5. Klouwer FC, Berendse K, Ferdinandusse S, Wanders RJ, Engelen M, Poll-The BT. Zellweger spectrum disorders: clinical overview and management approach. Orphanet J Rare Dis. 2015;10:151. doi: 10.1186/s13023-015-0368-9. [PubMed: 26627182].
  • 6. Crane DI. Revisiting the neuropathogenesis of Zellweger syndrome. Neurochem Int. 2014;69:1-8. doi: 10.1016/j.neuint.2014.02.007. [PubMed: 24607700].
  • 7. Braverman NE, D'Agostino MD, Maclean GE. Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev. 2013;17(3):187-96. doi: 10.1002/ddrr.1113. [PubMed: 23798008].
  • 8. Gootjes J, Schmohl F, Mooijer PA, Dekker C, Mandel H, Topcu M, et al. Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism. Hum Mutat. 2004;24(2):130-9. doi: 10.1002/humu.20062. [PubMed: 15241794].
  • 9. Schutgens RB, Heymans HS, Wanders RJ, van den Bosch H, Tager JM. Peroxisomal disorders: a newly recognised group of genetic diseases. Eur J Pediatr. 1986;144(5):430-40. [PubMed: 3514227].
  • 10. Wanders RJ, Waterham HR. Biochemistry of mammalian peroxisomes revisited. Annu Rev Biochem. 2006;75:295-332. doi: 10.1146/annurev.biochem.74.082803.133329. [PubMed: 16756494].
  • 11. Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, et al. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nat Genet. 1997;17(4):445-8. doi: 10.1038/ng1297-445. [PubMed: 9398847].
  • 12. Zeharia A, Ebberink MS, Wanders RJ, Waterham HR, Gutman A, Nissenkorn A, et al. A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C. J Hum Genet. 2007;52(7):599-606. doi: 10.1007/s10038-007-0157-y. [PubMed: 17534573].
  • 13. Steinberg SJ, Snowden A, Braverman NE, Chen L, Watkins PA, Clayton PT, et al. A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. J Inherit Metab Dis. 2009;32(1):109-19. doi: 10.1007/s10545-008-0969-8. [PubMed: 19127411].
  • 14. Gould SJ, Raymond GV, Valle D. The peroxisome biogenesis disorders. In: Scriver CR, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001. p. 3181-18.
  • 15. Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome biogenesis disorders. Biochim Biophys Acta. 2006;1763(12):1733-48. doi: 10.1016/j.bbamcr.2006.09.010. [PubMed: 17055079].
  • 16. Shimozawa N, Nagase T, Takemoto Y, Ohura T, Suzuki Y, Kondo N. Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. Am J Med Genet A. 2003;120A(1):40-3. doi: 10.1002/ajmg.a.20030. [PubMed: 12794690].
  • 17. Bowen P, Lee CS, Zellweger H, Lindenberg R. A Familial Syndrome of Multiple Congenital Defects. Bull Johns Hopkins Hosp. 1964;114:402-14. [PubMed: 14169466].
  • 18. Lee PR, Raymond GV. Child neurology: Zellweger syndrome. Neurology. 2013;80(20):e207-10. doi: 10.1212/WNL.0b013e3182929f8e. [PubMed: 23671347].
  • 19. Steinberg S, Chen L, Wei L, Moser A, Moser H, Cutting G, et al. The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. Mol Genet Metab. 2004;83(3):252-63. doi: 10.1016/j.ymgme.2004.08.008. [PubMed: 15542397].
  • 20. Wanders RJ. Metabolic and molecular basis of peroxisomal disorders: a review. Am J Med Genet A. 2004;126A(4):355-75. doi: 10.1002/ajmg.a.20661. [PubMed: 15098234].
  • 21. Dursun A, Gucer S, Ebberink MS, Yigit S, Wanders RJ, Waterham HR. Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails. J Inherit Metab Dis. 2009;32 Suppl 1:S345-8. doi: 10.1007/s10545-009-9010-0. [PubMed: 20033294].
  • 22. Levesque S, Morin C, Guay SP, Villeneuve J, Marquis P, Yik WY, et al. A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. BMC Med Genet. 2012;13:72. doi: 10.1186/1471-2350-13-72. [PubMed: 22894767].
  • 23. Zung A, Mogilner BM, Nissani R, Appelman Z, Gelman de Kohan Z. Occurrence of cerebrohepatorenal (Zellweger) syndrome in the Karaite community in Israel: a genetic hypothesis. Isr J Med Sci. 1990;26(10):570-2. [PubMed: 2249933].
  • 24. Kaplan S, Pinar G, Kaplan B, Aslantekin F, Karabulut E, Ayar B, et al. The Prevalence of Consanguineous Marriages and Affecting Factors in Turkey: A National Survey. J Biosoc Sci. 2016;48(5):616-30. doi: 10.1017/S0021932016000055. [PubMed: 26892044].
  • 25. Powers JM, Tummons RC, Caviness VJ, Moser AB, Moser HW. Structural and chemical alterations in the cerebral maldevelopment of fetal cerebro-hepato-renal (Zellweger) syndrome. J Neuropathol Exp Neurol. 1989;48(3):270-89. [PubMed: 2703857].
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

Search Relations:

Author(s):

Article(s):

Create Citiation Alert
via Google Reader