Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene
K Buysse, S Vergult, S Mussche… - American Journal of …, 2010 - Wiley Online Library
American Journal of Medical Genetics Part A, 2010•Wiley Online Library
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 57–131 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 …
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 57–131 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 …
Abstract
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 57–131 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. © 2010 Wiley‐Liss, Inc.
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