Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient
| Autor: | Melissa T. Carter, Eoghan E. Laffan, Pierre Jacob, Michael D. O'Connor, Hugh J. McMillan, Kym M. Boycott |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
Pathology
medicine.medical_specialty Ataxia Cerebellar Ataxia Physiology DNA Mutational Analysis Neural Conduction Protein Array Analysis Chromosome Disorders Genes Recessive Neurological disorder Cellular and Molecular Neuroscience Sarcoglycans Physiology (medical) medicine Humans Spasticity Muscular dystrophy Heat-Shock Proteins Chromosomes Human Pair 13 Microarray analysis techniques business.industry Infant Anatomy medicine.disease Magnetic Resonance Imaging Peripheral neuropathy Muscular Dystrophies Limb-Girdle Muscle Spasticity Gene chip analysis Female Neurology (clinical) medicine.symptom business Gene Deletion Follow-Up Studies Limb-girdle muscular dystrophy |
| Zdroj: | Muscle & Nerve. 39:396-399 |
| ISSN: | 1097-4598 0148-639X |
| Popis: | We describe a 10-year-old girl with limb-girdle muscular dystrophy type 2C (LGMD2C, gamma-sarcoglycan deficiency) with additional features that include progressive lower limb spasticity, peripheral neuropathy, and ataxia. The gene for LGMD2C lies in close approximation to the gene for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) on chromosome 13q12. The clinical presentation was suspicious for a genomic rearrangement affecting the expression of both genes. Using chromosomal microarray analysis, a homozygous deletion that encompassed the genes for both disorders was identified. This is the first report of a patient with both neurological diseases, and this case illustrates the clinical utility of microarray technology in the investigation of patients with unusual presentations. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text