Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient.
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.
McMillan
Hugh J
HJ
Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Carter
Melissa T
MT
Jacob
Pierre J
PJ
Laffan
Eoghan E
EE
O'Connor
Michael D
MD
Boycott
Kym M
KM
D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D017353:Gene Deletion; D005808:Genes, Recessive; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D009128:Muscle Spasticity / Q000150:complications / Q000235:genetics / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009431:Neural Conduction / Q000235:genetics; D040081:Protein Array Analysis / Q000379:methods; D049031:Sarcoglycans / Q000172:deficiency / Q000235:genetics*
D006360:Heat-Shock Proteins; C404403:SACS protein, human; D049031:Sarcoglycans