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Title
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Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene
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Author
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Abstract
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| Different missense, nonsense and frameshift mutations in the GAN gene encoding gigaxonin have been described to cause giant axonal neuropathy, a severe early-onset progressive neurological disease with autosomal recessive inheritance. By oligonucleotide array CGH analysis, we identified a 57131 kb microdeletion affecting this gene in a patient with developmental delay, ataxia, areflexia, macrocephaly, and strikingly frizzy hair. The microdeletion was inherited from the mother and mutation analysis revealed a paternally inherited missense mutation c.1456G>A in exon 9 on the other allele. Our findings illustrate the power of higher resolution array CGH studies and highlight the importance of considering copy number variations in autosomal recessive diseases. |
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Language
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English
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Source (journal)
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American journal of medical genetics : part A. - Bognor Regis, 2003, currens
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Publication
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Bognor Regis
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2010
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ISSN
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1552-4825
[print]
1552-4833
[online]
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Volume/pages
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152
:11
(2010)
, p. 2802-2804
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ISI
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000284005700020
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Full text (Publisher's DOI)
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