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GENATLAS PHENOTYPE
last update : 23-05-2012
Symbol DEL14Q22
Location 14q22.2
Name chromosome 14q deletion, encompassing band q22
Corresponding gene OTX2 , SIX6 , BMP4
Other symbol(s) AM
Main clinical features
  • anophthalmia and pituitary anomalies associated with mental retardation and other anomalies depending on the extent of the deletion
  • associated sometimes with polysyndactyly and hypopituitarism
    • Genetic determination chromosomal
    Related entries BAPA, MCOPS6
    Function/system disorder multisystem/generalized
    eye
    mental retardation
    endocrinology
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   interstitial deletion encompassing band q22
    Remark(s)
    Genotype/Phenotype correlations BMP4 haploinsufficiency is predicted to contribute to ocular development, BMP4 and SIX6 to the abnormal pituitary development and SIX1 to the ear and other craniofacial features ; BMP4 is proposed as a major gene for AM and/or retinal dystrophy and brain anomalies, may be a candidate gene for myopia and polysyndactyly ; marked intrafamilial variability in a three generation family with four individuals carrying a 2.79 Mb microdeletion 14q22.1-22.2 encompassing BMP4 but not OTX2 nor SIX6 PMID: 22581619 ;