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GENATLAS PHENOTYPE
last update : 05-07-2017
Symbol PMLD1
Location 1q42.13
Name Pelizaeus-Merzbacher-like disease 1
Other name(s)
  • leukodystrophy, hypomyelinating,2
    • Corresponding gene GJC2
    Other symbol(s) PMLDAR1, PMLD, HLD2
    Main clinical features
  • hypomyelinating leukodystrophy characterized by nystagmus, progressive spasticity, choreoathetotic movements, dysarthria and ataxia
    • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    neurology
    Type disease
    Gene product
    Name gap junction protein, alpha 12
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     including missense, nonsense, and frameshift mutations
    Remark(s) . mutants associated with PMLD likely disrupt the gap junction coupling between astrocytes and oligodendrocytes
  • loss of function or dysfunction depending the mutation
    • Genotype/Phenotype correlations mutation I33M causes a milder phenotype, late-onset, slowly progressive, complicated spastic paraplegia, with normal or near-normal psychomotor development, preserved walking capability through adulthood, and no nystagmus; MRI and MR spectroscopy imaging were consistent with a hypomyelinating leukoencephalopathy