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Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene
Author(s) -
Buysse Karen,
Vergult Sarah,
Mussche Silke,
Groote Chantal Ceuterickde,
Speleman Frank,
Menten Björn,
Lissens Willy,
Van Coster Rudy
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33508
Subject(s) - frameshift mutation , genetics , missense mutation , biology , loss of heterozygosity , nonsense mutation , compound heterozygosity , mutation , exon , allele , ataxia , gene , neuroscience
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.