title: Clinical and genetic studies in a Chinese family with giant axonal neuropathy.
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.
authors.affiliation: From the Department of Neurology, Beijing Children's Hospital, The Capital Medical University, Beijing, China.
authors.forename: Li-Ping
authors.initials: LP
authors.lastname: Zhang
authors.forename: Li-Ping
authors.initials: LP
authors.lastname: Zou
mesh_terms: D017668:Age of Onset; D019943:Amino Acid Substitution / Q000235:genetics; D044466:Asian People; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002526:Cerebellar Diseases / Q000235:genetics / Q000503:physiopathology; D002675:Child, Preschool; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D003389:Cranial Nerve Diseases / Q000235:genetics / Q000503:physiopathology; D003598:Cytoskeletal Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004568:Electrodiagnosis; D004576:Electromyography; D005260:Female; D020233:Gait Disorders, Neurologic / Q000235:genetics / Q000503:physiopathology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D056768:Giant Axonal Neuropathy / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology; D020125:Mutation, Missense / Q000235:genetics*; D009420:Nervous System / Q000473:pathology / Q000503:physiopathology*; D009431:Neural Conduction / Q000235:genetics; D010525:Peripheral Nerves / Q000473:pathology / Q000503:physiopathology; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000503:physiopathology
chemical_list: D003598:Cytoskeletal Proteins; C416508:GAN protein, human