جهش جدید PEX12:گزارش موردی یک دختر ایرانی با اختلال پروکسیزومال کودکی:ALDکاذب

Title

PEX12 Novel Mutation: A Case Report on Iranian Girl with Childhood Onset Peroxisomal Disorder: Pseudo ALD

English Abstract

Objective: To report a 7 years old girl with genetic and biochemical characteristics of zellweger spectrum disorder who presented with phenotype and neuro imaging findings of adrenoleukodystrophy. Methods: Target gene sequencing was performed by using a custom designed panel for this patient with focused mutation analysis on 16 peroxisomal genes included in the panel. Sanger sequencing was used to confirm the identified mutation. Results: This patient was homozygote for a missense mutation in exon 2 of the PEX 12 gene; c.541T>G (p.Tyr181Asp) which is a conserved residue in the N-terminal region crucial for localization to peroxisomes. Her parents and healthy sister were also found to have the same heterozygote mutation. Conclusion: We suggest that PEX 12 gene mutations with a milder phenotype may be a potential candidate for posterior dominant leukodystrophy of childhood resembling X-linked ALD. This is entitled to pseudo- ALD and may be a diagnostic possibility in patients who develop ALD phenotype and neuroimaging particularly, in girls.

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