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

J Child Neurol. 2009 Dec;24(12):1552-6. doi: 10.1177/0883073809332703. Epub 2009 Mar 18.

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.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Amino Acid Substitution / genetics
  • Asian People
  • Brain / pathology
  • Brain / physiopathology
  • Cerebellar Diseases / genetics
  • Cerebellar Diseases / physiopathology
  • Child, Preschool
  • Chromosomes, Human, Pair 16 / genetics
  • Cranial Nerve Diseases / genetics
  • Cranial Nerve Diseases / physiopathology
  • Cytoskeletal Proteins / genetics
  • DNA Mutational Analysis
  • Disease Progression
  • Electrodiagnosis
  • Electromyography
  • Female
  • Gait Disorders, Neurologic / genetics
  • Gait Disorders, Neurologic / physiopathology
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Giant Axonal Neuropathy / ethnology
  • Giant Axonal Neuropathy / genetics*
  • Giant Axonal Neuropathy / physiopathology*
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / physiopathology
  • Mutation, Missense / genetics*
  • Nervous System / pathology
  • Nervous System / physiopathology*
  • Neural Conduction / genetics
  • Peripheral Nerves / pathology
  • Peripheral Nerves / physiopathology
  • Peripheral Nervous System Diseases / genetics
  • Peripheral Nervous System Diseases / physiopathology

Substances

  • Cytoskeletal Proteins
  • GAN protein, human