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GENATLAS PHENOTYPE
last update : 21-12-2009
Symbol COH1
Location 8q22.2
Name Cohen syndrome
Other name(s)
  • Pepper syndrome
  • hypotonia, obesity, and prominent incisors
    • Corresponding gene VPS13B
    Main clinical features
  • mental retardation, postnatal microcephaly,
  • facial dysmorphism with downslanting and wave shaped palpebral fissures, short philtrum and prominent upper central incisors
  • pigmentary retinopathy, myopia, and intermittent neutropenia
  • marked variability of developmental and growth parameters
  • in any cases primary cutis verticis gyrata of the scalp, and deafness
    • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    eye
    multisystem/generalized
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein nonsense, frameshift, splice site, large in frame deletions, and missense, with the vast majority leading to premature termination codons
    Remark(s)