Format

Send to

Choose Destination
See comment in PubMed Commons below
J Child Neurol. 2009 Dec;24(12):1552-6. doi: 10.1177/0883073809332703. Epub 2009 Mar 18.

Clinical and genetic studies in a Chinese family with giant axonal neuropathy.

Author information

1
From the Department of Neurology, Beijing Children's Hospital, The Capital Medical University, Beijing, China.

Abstract

The objective of the study was to investigate a girl with giant axonal neuropathy and detect the mutation of GAN gene in her family. The encoding exons of GAN gene were amplified from genomic DNA of the proband and her parents by polymerase chain reaction and directly sequenced after purification. The proband manifested typical neurological symptoms and pathological abnormalities. The case had 2 heterozygous missense mutations in GAN gene: 1. c. 224 T>A in exon 2, her mother was a heterozygote of this mutation and had normal phenotype; 2. c.1634G>A in exon 10, and her father was a heterozygote of this mutation and had normal phenotype. Both of the mutations caused amino acid changes in the gigaxonin protein. In this family, missense mutation of c.224 T>A and missense mutation of c.1634G>A in GAN gene caused the phenotype of giant axonal neuropathy in the proband. Her parents are heterozygotes of the disease without symptoms.

PMID:
19295179
DOI:
10.1177/0883073809332703
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Atypon
    Loading ...
    Support Center