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GENATLAS PHENOTYPE
last update : 31/01/2006
Symbol SCRA
Location 7q36
Name Currarino syndrome
Other name(s) Currarino triad
Corresponding gene MNX1
Other symbol(s) SACRA
Main clinical features
  • variable expressivity, reduced penetrance and a remarkable variability of symptoms even within one family . sacral agenesis, typically incomplete involving sacral vertebrae S2-S5 only, medullar lipomas, anorectal malformations, presacral mass comprising anterior meningocele, enteric cyst and/or presacral teratoma and urogenital malformations, two-horned uterus
  • Genetic determination autosomal dominant
    Related entries DEL7Q36
    Function/system disorder osteo-articular
    congenital malformation
    digestive tract/gastrointestinal
    Type malformation
    Gene product
    Name encodes HB9 transcription factor and interact with DNA through a highly conserved homeodomain early in embyonic development
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein frameshift or nonsense represent 57 p100 of those identified
      deletion haploinsufficiency deletions of 7q36 including HLXB9, may be cryptic requiring FISH for diagnosis
    Remark(s) mutation detection rate is about 50 percent, and 90 percent in familial case
    Genotype/Phenotype correlations mutations in the HLXB9/MNX1 gene can predict neither the severity nor the long-term prognosis of the disease. Due to a lack of genotype-phenotype correlation and the broad variability of phenotype in heterozygotes, clinical and genetic investigations among relatives are mandatory in all HLXB9 gene mutation cases, to detect asymptomatic CS cases and to prevent the occurrence of severe complications