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GENATLAS PHENOTYPE
last update : 14/03/2013
Symbol SPG51
Location 15q21.2
HGNC id 573
Name spastic paraplegia 51
Other name(s) Cerebral Palsy with Microcephaly and Intellectual Disability 4
Corresponding gene AP4E1
Other symbol(s) CPSQ4
Main clinical features spastic tetraplegic cerebral palsy with profound intellectual disability, mental retardation, microcephaly, epilepsy and white matter loss PMID:20972249
  • microcephaly, hypotonia, psychomotor delay, spastic tetraplegia, marked cognitive impairment with severe language impairment, facial dysmorphic features, abnormal brain MRI showed (including atrophy and diffuse white matter loss); seizures were variably present
    • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    mental retardation
    Type disease
    Gene product
    Name Adaptor-related protein complex 4, Epsilon-1 subunit
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion deletion   a 192 kb homozygous deletion of chromosome 15q21.2 (chr15:48835480-49028171; hg18 genome assembly) that includes the 5′ end of AP4E1 and SPPL2A genes PMID:20972249
    Remark(s)