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Journal of Tropical Pediatrics Advance Access originally published online on November 12, 2007
Journal of Tropical Pediatrics 2008 54(3):208-210; doi:10.1093/tropej/fmm099
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© The Author [2007]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Case Reports

Novel Mutation of Aspartoacylase Gene in a Turkish Patient with Canavan Disease

Aycan Unalpa, Ender Altiokb, Nedret Urana, Aysel Öztürka and Sirin Yükselc

aPediatric Neurology, Dr. Behçet Uz Children's Disease and Pediatric Surgery Education and Research Hospital, Montro-Izmir
bCenter for Genetic Diagnosis and Treatment, Acibadem Hospital-Istanbul, Turkey
cAcibadem Hospital, Genetik Department

Correspondence: Aycan Unalp, Arikent Sitesi 2, E-1 blok,Kat 3, Daire 7, 35320, Narlidere-Izmir, Turkey. Tel: +90-232-2387097; Fax: +90-232-3668530. E-mail <aycanunalp{at}mynet.com>.


  Abstract

Canavan disease is a neurodegenerative disease with autosomal recessive inheritance. Although this disease is prevalant among Ashkenazi Jewish population, several cases have been reported from all over the world. Canavan disease is caused by a genetic mutation in aspartoacylase gene. We have identified a novel mutation, a homozygous C432+1G>A mutation, in a 10-month-old boy who has a typical Canavan phenotype (without macrocephaly) accompanied by typical brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS) and diffusion magnetic resonance findings. The patient's mother was found to be heterozygous for this mutation. We believe that future studies of aspartoacylase gene in various ethnic groups could lead to a better understanding of Canavan's pathophysiology and gene therapy.

Key Words: Canavan disease • infantile • neurodegenerative • genetic test


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