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last update : 28/12/2005
Symbol WHSCR
Location 4p16.3
Name Wolf-Hirschhorn syndrome, mild form
Corresponding gene LETM1 , WHSC1 , WHSC2
Other symbol(s) DEL4P16, WHS
Main clinical features
  • minimal phenotype : distinctive facial appearance, growth retardation, microcephaly, mental retardation, seizures
  • major malformations usually absent
  • associated with microdeletion 4p16.3
  • Genetic determination chromosomal
    Related entries Pitt-Rogers-Danks syndrome (PRDS), WHS for classical phenotype
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency microdeletion less than 3,5 Mb, usually detected by FISH
    Remark(s) WHSC1 might function together with developmental transcription factors to prevent the inappropriate transcription that can lead to various pathophysiologies (Nimura,2009)
    Genotype/Phenotype correlations subtle subtelomeric deletions do not result in the WHS or WHSCR phenotype; monosomy of the first 400 kb of 4p is likely not pathogenic and can be inherited from a normal parent; deletions extending into the 1.4 Mb region do appear pathogenic; however, the phenotype is a relatively mild developmental delay with possible seizures and growth delay. Finally, deletions extending into the 1.81.9 Mb region can result in a phenotype with significant overlap and perhaps even classification of a mild WHS phenotype; terminal deletions larger than 1.9 Mb clearly result in the full WHS phenotype