Detection of GAN gene Mutation in Leukodystrophy: A Case Report

Publish Year: 1396
نوع سند: مقاله کنفرانسی
زبان: English
View: 392

نسخه کامل این Paper ارائه نشده است و در دسترس نمی باشد

  • Certificate
  • من نویسنده این مقاله هستم

استخراج به نرم افزارهای پژوهشی:

لینک ثابت به این Paper:

شناسه ملی سند علمی:

NGCMED10_159

تاریخ نمایه سازی: 16 تیر 1397

Abstract:

Introduction: Leukodystrophies comprise a clinically and genetically heterogeneous group of progressivehereditary neurological disorders mainly affecting the myelin in the central nervous system. Here, we present afamily with leukodystrophy followed by molecular genetic evaluation.Methods: A nine years old boy with peripheral neuropathy, polycyctic kidney and Precocious puberty, referredfor genetic counselling. EMG showed axonal neuropathy which has suggested demyelinating type. Parents werefirst cousin with no history of other patient in their first and second degrees’ relatives. Genomic DNA wasevaluated through whole exome sequencing followed by bioinformatics analysis of data. Parents and healthychild were examined for the candidate gene variant.Results: One homozygote variant c.851+1G> A on gene GAN has been detected. The frequencies of this variantin normal population are very low. It has been reported as pathogenic and predicted to be damaging by severalonline prediction tools. GAN- related giant axonal neuropathy is inherited in an autosomal recessive manner.Parents and other healthy child were heterozygote for this variant.Conclusion: This case demonstrates that this major developmental error can be diagnosed with new molecularmethod such as whole exome sequencing along with comprehensive clinical examination.

Authors

Naimeh ahangari

Department of Modern Sciences and Technologies, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran- Next Generation Genetic Polyclinic, Mashhad, Iran

Mohammad Doosti

Next Generation Genetic Polyclinic, Mashhad, Iran

Sima Shahrokhzadeh

Next Generation Genetic Polyclinic, Mashhad, Iran

Farah Ashrafzadeh

Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran