|
Title
|
|
|
|
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene
| |
|
Author
|
|
|
|
| |
|
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 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. |
| |
|
Language
|
|
|
|
English
| |
|
Source (journal)
|
|
|
|
American journal of medical genetics : part A. - Bognor Regis, 2003, currens
| |
|
Publication
|
|
|
|
Bognor Regis
:
2010
| |
|
ISSN
|
|
|
|
1552-4825
[print]
1552-4833
[online]
| |
|
DOI
|
|
|
|
10.1002/AJMG.A.33508
| |
|
Volume/pages
|
|
|
|
152
:11
(2010)
, p. 2802-2804
| |
|
ISI
|
|
|
|
000284005700020
| |
|
Full text (Publisher's DOI)
|
|
|
|
| |
|