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NM_025137.4(SPG11):c.3068dup (p.Glu1026Argfs) AND Spastic paraplegia 11, autosomal recessive

Significance: Pathogenic
ClinVar: RCV000001176

Variant: NM_025137.4(SPG11):c.3068dup (p.Glu1026Argfs)

Type: Variant
Allele: NM_025137.4(SPG11):c.3068dup (p.Glu1026Argfs) 16156
Gene:
Type: Duplication
Location: Chr15: 44905698 - assembly GRCh37
Chr15: 44613507 - assembly GRCh38
Chr15: 44613507 - assembly GRCh38
References: dbSNP: 312262752
OMIM: 610844.0009

Condition

Disease: Spastic paraplegia 11, autosomal recessive

Citation

    In 2 sibs, born of consanguineous Iranian parents, with autosomal recessive spastic paraplegia-11 (SPG11; 604360), Orlen et al. (2009) identified a homozygous 1-bp duplication (3067dupA) in exon 17 of the SPG11 gene, resulting in a frameshift and premature termination. The patients were 14 and 29 years old, respectively, at the time of the report. Both had onset at age 3 to 4 years, but the younger brother had a milder phenotype. The older sister was wheelchair-bound due to lower limb spasticity, had amyotrophy of the hands, learning disability, thin corpus callosum, and central retinal degeneration.
PMID:19194956