Canavan Disease: A Novel Mutation - 09/09/11
Doi : 10.1016/j.pediatrneurol.2011.06.011
Harald Schober, MD a, ⁎ 
, Juerg Luetschg, MD a, Isabella Hoeliner, MD a, Stefanie Kalb, MD b, Burkhard Simma, MD a
, Juerg Luetschg, MD a, Isabella Hoeliner, MD a, Stefanie Kalb, MD b, Burkhard Simma, MD a a Department of Pediatrics, Academic Teaching Hospital, Feldkirch, Austria
b Division of Human Genetics, Innsbruck Medical University, Innsbruck, Austria
Communications should be addressed to: Dr. Schober; Department of Pediatrics; Academic Teaching Hospital; Landeskrankenhaus Feldkirch; Feldkirch 6800, Austria.Abstract |
Canavan disease, an autosomal recessive inherited leukodystrophy caused by an aspartoacylase deficiency, is common among children of Ashkenazi Jewish descent.
We report on a non-Jewish female infant who presented at age 6 months with progressive macrocephaly and developmental delay. A sequence analysis of the aspartoacylase gene revealed compound heterozygosity for a known mutation and for the mutation c.432G>A in exon 2, which has not yet been described in Canavan disease.
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© 2011
Elsevier Inc. Tous droits réservés.
Vol 45 - N° 4
P. 256-258 - octobre 2011 Retour au numéro
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