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last update : 17-03-2021
Symbol SPG54
Location 8p11.3
HGNC id 29106
Name spastic paraplegia type 54
Corresponding gene DDHD2
Main clinical features very early-onset (<2 years) spastic paraplegia, intellectual disability, thin corpus callosum and subtle periventricular white-matter hyperintensities, and abnormal lipid peak on cerebral proton magnetic resonance spectroscopy PMID:23176823
  • early onset of spastic paraplegia, mental retardation, short stature and dysgenesis of the corpus callosum PMID:23486545
  • foot contractures, dysarthria, dysphagia, strabismus, optic hypoplasia
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name DDHD domain containing 2
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein c.1804_1805insT p.Thr602Ilefs*18, c.2057delA p.Glu686Glyfs*35, c.138dupC p.Ile463Hisfs*6 PMID:23176823
    missense     c.1978G>C p.Asp660His PMID:23176823
    nonsense   truncated protein c.1546C>T p.Arg516*, c.859C>T p.Arg287* PMID:23176823
    nonsense   truncated protein c.859C>T, p.Arg287* PMID:23486545
    frameshift   truncated protein c.1982_1983delAT, p.Tyr661Cysfs*8 PMID:23486545