Two novel pathogenic mutations of GAN gene identified in a patient with giant axonal neuropathy.
- Author:
Juan WANG
1
,
2
;
Qingwen MA
;
Qin CAI
;
Yanna LIU
;
Wei WANG
;
Zhaorui REN
Author Information
- Publication Type:Case Reports
- MeSH: Amino Acid Sequence; Child; Computational Biology; Cytoskeletal Proteins; genetics; Giant Axonal Neuropathy; genetics; Humans; Male; Molecular Sequence Data; Mutation; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2016;33(3):292-295
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the disease-causing mutations in a patient suspected for giant axonal neuropathy(GAN).
METHODSTarget sequence capture sequencing was used to screen potential mutations in genomic DNA extracted from peripheral blood sample of the patient. Sanger sequencing was applied to confirm the detected mutation. The mutation was verified among 400 GAN alleles from 200 healthy individuals by Sanger sequencing. The function of the mutations was predicted by bioinformatics analysis.
RESULTSThe patient was identified as a compound heterozygote carrying two novel pathogenic GAN mutations, i.e., c.778G>T (p.Glu260Ter) and c.277G>A (p.Gly93Arg). Sanger sequencing confirmed that the c.778G>T (p.Glu260Ter) mutation was inherited from his father, while c.277G>A (p.Gly93Arg) was inherited from his mother. The same mutations was not found in the 200 healthy individuals. Bioinformatics analysis predicted that the two mutations probably caused functional abnormality of gigaxonin.
CONCLUSIONTwo novel GAN mutations were detected in a patient with GAN. Both mutations are pathogenic and can cause abnormalities of gigaxonin structure and function, leading to pathogenesis of GAN. The results may also offer valuable information for similar diseases.
