Connexion

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 mutation	Chromosome rearrangement	Effect	Comments

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