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References OMIM Gene GeneReviews HGMD HGNC
last update : 09-07-2018
Symbol LJFS1
Location Xq13.1
Name Lujan-Fryns syndrome 1
Corresponding gene MED12
Main clinical features
  • marfanoid habitus and similar craniofacial changes: long, narrow face, small mandible, high-arched palate, and hypernasal voice
  • tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate with dental crowding, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate mental retardation, behavioural aberrations and dysgenesis of the corpus callosum
  • Genetic determination sex linked
    Function/system disorder kidney and urinary tract
    Type disease
  • dysregulated GLI3-dependent SHH signaling due to MED12 mutation contributes to phenotypes of individuals with FGS1 (PMID: 23091001))
  • mutations N1007S causing Lujan syndromes, disrupt a Mediator-imposed constraint on GLI3-dependent Sonic Hedgehog (SHH) signaling (PMID: 23091001))