HOMOZYGOUS CONTIGUOUS GENE DELETION OF 13q12 CAUSING LGMD2C AND ARSACS IN THE SAME PATIENT

被引：11

作者：

McMillan, Hugh J. ^{[2
]}

Carter, Melissa T. ^{[1
]}

Jacob, Pierre J. ^{[2
]}

Laffan, Eoghan E.

O'Connor, Michael D. ^{[3
]}

Boycott, Kym M. ^{[1
]}

机构：

[1] Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada

[2] Childrens Hosp Eastern Ontario, Div Neurol, Ottawa, ON K1H 8L1, Canada

[3] Ottawa Gen Hosp, Ottawa Eye Inst, Ottawa, ON K1H 8L6, Canada

来源：

MUSCLE & NERVE | 2009年 / 39卷 / 03期

关键词：

limb girdle muscular dystrophy; gamma-sarcoglycan; ARSACS; spastic ataxia; chromosomal microarray analysis; RECESSIVE SPASTIC ATAXIA; CHARLEVOIX-SAGUENAY; MUSCULAR-DYSTROPHY; GAMMA-SARCOGLYCAN; MUTATIONS; QUEBEC;

D O I：

10.1002/mus.21222

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. Muscle Nerve 39: 396-399, 2009

引用

页码：396 / 399

页数：4

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