A Novel Mutation in PEX11β Gene: A Case Report
Iranian Journal of Child Neurology,
Vol. 15 No. 1 (2021),
PEX11β ([OMIM] 614920) mutation causes an extremely rare subgroup of peroxisomal biogenesis disorders, with only six cases reported to date. In this article, we reported a patient with episodic migrainelike
attacks, delirium, mood and behavior change, polyneuropathy, and history of congenital cataract. Whole exome sequencing showednovel c.743_744delTCinsA mutation in the exon 4 of the PEX11β gene. In contrast to previously reported patients, our case presented milder features and extended the spectrum of the clinical phenotype of this mutation. This study helps to extend the phenotype of this syndrome; besides, recognizing novel mutation variants will provide a better genotype-phenotype correlation and improve clinical clues
- peroxisomal Disease
- peroxisome biogenesis disorder
- congenital cataract
How to Cite
Wanders RJ, Waterham HR. Biochemistry of mammalian peroxisomes revisited. Annual
review of biochemistry. 2006;75:295-332.
Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome biogenesis disorders. Biochimica et biophysica acta. 2006;1763(12):1733-48.
Smith JJ, Aitchison JD. Peroxisomes take shape. Nature reviews Molecular cell biology. 2013;14(12):803-17.
Koch J, Pranjic K, Huber A, Ellinger A, Hartig A, Kragler F, et al. PEX11 family members are
membrane elongation factors that coordinate peroxisome proliferation and maintenance. Journal of cell science. 2010;123(Pt 19):3389- 400.
Li X, Gould SJ. PEX11 promotes peroxisome division independently of peroxisome metabolism. The Journal of cell biology. 2002;156(4):643-51.
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (Oxford, England). 2009;25(14):1754-60.
Meyer LR, Zweig AS, Hinrichs AS, Karolchik D, Kuhn RM, Wong M, et al. The UCSC Genome Browser database: extensions and updates 2013. Nucleic acids research. 2013;41(Database issue):D64-9.
Yan M, Rayapuram N, Subramani S. The control of peroxisome number and size during division and proliferation. Current opinion in cell biology. 2005;17(4):376-83.
Waterham HR, Ebberink MS. Genetics and molecular basis of human peroxisome biogenesis disorders. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease. 2012;1822(9):1430-41.
Braverman NE, D’agostino MD, MacLean GE. Peroxisome biogenesis disorders: Biological,
clinical and pathophysiological perspectives. Developmental disabilities research reviews. 2013;17(3):187-96.
Fujiki Y. Peroxisome biogenesis and human peroxisome-deficiency disorders. Proceedings of the Japan Academy, Series B. 2016;92(10):463-77
Ebberink MS, Koster J, Visser G, van Spronsen F, Stolte-Dijkstra I, Smit GPA, et al. A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. Journal of medical genetics.
Taylor RL, Handley MT, Waller S, Campbell C, Urquhart J, Meynert AM, et al. Novel PEX11B mutations extend the peroxisome biogenesis disorder 14B phenotypic spectrum and underscore congenital cataract as an early
feature. Investigative ophthalmology & visual science. 2017;58(1):594-603.
Gillespie RL, O’Sullivan J, Ashworth J, Bhaskar S, Williams S, Biswas S, et al. Personalized diagnosis and management of congenital cataract by next-generation sequencing. Ophthalmology. 2014;121(11):2124-37.e1-2.
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