title: The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
abstract: A novel missense mutation in the mediator of RNA polymerase II transcription subunit 12 (MED12) gene has been found in the original family with Lujan syndrome and in a second family (K9359) that was initially considered to have Opitz-Kaveggia (FG) syndrome. A different missense mutation in the MED12 gene has been reported previously in the original family with FG syndrome and in five other families with compatible clinical findings. Neither sequence alteration has been found in over 1400 control X chromosomes. Lujan (Lujan-Fryns) syndrome is characterised by 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. Although Lujan syndrome has not been previously considered to be in the differential diagnosis of FG syndrome, there are some overlapping clinical manifestations. Specifically, these are dysgenesis of the corpus callosum, macrocephaly/relative macrocephaly, a tall forehead, hypotonia, mental retardation and behavioural disturbances. Thus, it seems that these two X-linked mental retardation syndromes are allelic, with mutations in the MED12 gene.
authors: Charles E
authors: CE
authors: Schwartz
authors: Patrick S
authors: PS
authors: Tarpey
authors: Herbert A
authors: HA
authors: Lubs
authors: Alain
authors: A
authors: Verloes
authors: Melanie M
authors: MM
authors: May
authors: Hiba
authors: H
authors: Risheg
authors: Michael J
authors: MJ
authors: Friez
authors: P Andrew
authors: PA
authors: Futreal
authors: Sarah
authors: S
authors: Edkins
authors: Jon
authors: J
authors: Teague
authors: Sylvain
authors: S
authors: Briault
authors: Cindy
authors: C
authors: Skinner
authors: Astrid
authors: A
authors: Bauer-Carlin
authors: Richard J
authors: RJ
authors: Simensen
authors: Sumy M
authors: SM
authors: Joseph
authors: Julie R
authors: JR
authors: Jones
authors: Josef
authors: J
authors: Gecz
authors: Michael R
authors: MR
authors: Stratton
authors: F Lucy
authors: FL
authors: Raymond
authors: Roger E
authors: RE
authors: Stevenson
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D056892:Mediator Complex; D038901:X-Linked Intellectual Disability / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011988:Receptors, Thyroid Hormone / Q000235:genetics*
chemical_list: C460107:MED12 protein, human; D056892:Mediator Complex; D011988:Receptors, Thyroid Hormone