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SPG20 mutation in three siblings with familial hereditary spastic paraplegia.

ABSTRACT: Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, and subtle skeletal abnormalities. It is caused by deleterious mutations in the SPG20 gene, encoding spartin, on Chromosome 13q13. Until now, six unrelated families with a genetically confirmed diagnosis have been reported. Here we report the clinical findings in three brothers of a consanguineous Moroccan family, aged 24, 17, and 7 yr old, with spastic paraplegia, short stature, motor and cognitive delay, and severe intellectual disability. Targeted exon capture and sequencing showed a homozygous nonsense mutation in the SPG20 gene, c.1369C>T (p.Arg457*), in the three affected boys.

SUBMITTER: Dardour L

PROVIDER: S-EPMC5495031 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature

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<i>SPG20</i> mutation in three siblings with familial hereditary spastic paraplegia.

Dardour Leila L Roelens Filip F Race Valerie V Souche Erika E Holvoet Maureen M Devriendt Koen K

Cold Spring Harbor molecular case studies 20170705 4

Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, and subtle skeletal abnormalities. It is caused by deleterious mutations in the <i>SPG20</i> gene, encoding spartin, on Chromosome 13q13. Until now, six unrelated families with a genetically confirmed diagnosis have been reported. Here we report the c ...[more]

PMID: 28679690

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