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

کریم زاده, پروانه and نجم آبادی, حسین and طبرستانی, سپیده and احمدآبادی, فرزاد and آهنگری, اف and فدایی, ام and فرخ آشتیانی, تی (1397) جهش جدید PEX12:گزارش موردی یک دختر ایرانی با اختلال پروکسیزومال کودکی:ALDکاذب. research in pediatrics &neonatology ــ 1 (5). pp. 1-3. شاپا 2576-9200


Official URL: http://crimsonpublishers.com/rpn/fulltext/RPN.0005...


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.

Item Type:Article
زبان سند : انگلیسی
نویسنده اول :پروانه کریم زاده
نویسنده مسئول :سپیده طبرستانی
نویسنده :فرزاد احمدآبادی
Additional Information:Indexed in: Index Copernicus, Google Scholar, WorldCat
کلیدواژه ها (انگلیسی):Zellweger spectrum disorder; Childhood onset; Pseudo-ALD; PEX 12 gene; Novel mutation
Subjects:WD Nutrition Disease and metabolic diseases
WL Nervous system
WS Pediatrics
Divisions:Faculty of Medicine > Department of Pediatrics , Community Medicine
ID Code:10365
Deposited By: Dr Farzad Ahmadabadi
Deposited On:08 May 1397 11:11
Last Modified:08 May 1397 11:11

Repository Staff Only: item control page

Document Downloads

More statistics for this item...