A Novel Mutation in PEX11β Gene: A Case Report
Iranian Journal of Child Neurology,
Vol. 15 No. 1 (2021),
21 December 2020
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
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