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GENATLAS PHENOTYPE
last update : 08-07-2010
Symbol CFNS
Location Xq13.1
Name craniofrontonasal dysplasia with coronal craniosynostosis
Other name(s) craniofrontonasal dysostosis
Corresponding gene EFNB1
Other symbol(s) CFND
Main clinical features
  • hypertelorism, clefting of the nasal tip, grooved nails, abnormalities of the thoracic skeleton
  • showing paradoxically greater severity in heterozygous females than in hemizygous males
  • agenesis of corpus callosum
  • Genetic determination sex linked
    Function/system disorder congenital malformation
    osteo-articular
    Type malformation
    Gene product
    Name Ephrin B1, transmembrane ligand of cognate ephrin receptor tyrosine kinase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   abnormal protein/loss of function premature termination or abrogating receptor-ligand interaction, oligomerization, and ephrin-B1 reverse signaling
    missense   abnormal protein/loss of function . abrogating ligand-receptor interaction and signal transduction . R66X
    insertion   truncated protein c.685_686insG, in exon 5, acting as a dominant negative protein
    various types   abnormal protein/loss of function comprising premature termination or abrogating receptor-ligand interaction, oligomerization, and ephrin-B1 reverse signaling
      deletion   EFNB1 gene deletion may be part of contiguous gene deletions involving OPHN1, PJA1 and EDA genes
    Remark(s)
  • duplication of the EFNB1 gene in familial hypertelorism by females (PMID: 21542058))
  • Genotype/Phenotype correlations for EFNB1 deletions pertaining to contiguous gene deletions, heterozygous females have mild developmental delay and male offspring of female carriers may be at risk of mental retardation and anhidrotic ectodermal dysplasia