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GENATLAS PHENOTYPE
last update : 14-04-2014
Symbol LCCS1
Location 9q34.11
HGNC id 30995
Name lethal congenital contracture syndrome 1
Other name(s) multiple contracture syndrome, Finnish type
Corresponding gene GLE1
Other symbol(s) LCCS
Main clinical features
  • characterized by total immobility of the fetus, detectable at the 13th week of pregnancy, accompanied by hydrops, micrognatia, pulmonary hypoplasia, pterygia and multiple joint contractures, invariably leading to prenatal death before the 32nd gestational week
  • neuropathological analysis shows lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and hypoplastic, nearly absent skeletal muscles
    • Genetic determination autosomal recessive
    Related entries . milder form but also characterized by fetal akinesia, arthrogryposis and motor neuron loss, called lethal arthrogryposis with anterior horn cell disease (LAAHD)
    Function/system disorder neuromuscular
    osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function affect the coiled-coil domain of GLE1B, as well as the C-terminal region, which contains the NUPL2-binding domain
    Remark(s)
  • reduction in GLE1 activity causing the apoptosis of proliferative organ precursors during early development