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last update : 07-04-2009
Symbol MDS
Location 17p13.3
Name Miller-Dieker lissencephaly syndrome
Corresponding gene PAFAH1B1 , YWHAE
Other symbol(s) DEL17P13, MDLS
Main clinical features
  • lissencephaly, severe to profound mental retardation
  • characteristic facial appearance (bitemporal hollowing, frontal bossing, tall square forehead, flattened midface, short upturned nose, prominent upper lip) and other anomalies
  • agenesis of corpus callosum
  • Genetic determination chromosomal
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name lissencephaly gene LIS1/PAFAH1B1 and other unidentified components
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency microdeletion of 17p13.3 including the LIS1/PAFAH1B1 gene, usually cryptic, terminal or interstitial detected by FISH
      translocation haploinsufficiency unbalanced form with der(17)of familial, often cryptic, reciprocal translocations
      ring haploinsufficiency  
    Remark(s) contiguous gene syndrome
    Genotype/Phenotype correlations patients with deletions involving YWHAE but not PAFAH1B1 present with growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment