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GENATLAS PHENOTYPE
last update : 22-02-2016
Symbol FRAS1
Location 4q21.21
Name Fraser syndrome 1
Other name(s)
  • cryptophthalmos syndactyly syndrome 1
  • cryptophthalmos with other malformations
  • Corresponding gene FRAS1
    Main clinical features
  • absent or malformed lacrimal ducts
  • middle and outer ear malformations, high palate, cleavage along the midplane of nares and tongue, hypertelorism, laryngeal stenosis, syndactyly, displacement of umbilicus and nipples, primitive mesentery of small bowel, maldeveloped kidneys and genital malformations
  • Genetic determination autosomal recessive
    Prevalence 11/100 000 stillbirths and 0.4/100 000 livebirths
    Function/system disorder congenital malformation
    eye
    kidney and urinary tract
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   abnormal protein/loss of function mutation in an exon encoding the NG2-like domain
    Remark(s) deficiency causes defective interactions between the bud and mesenchyme, correlating with disturbed expression of key nephrogenic molecules (Pitera 2008)