RGD Reference Report - The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. - Rat Genome Database

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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

Authors: Schwartz, Charles E  Tarpey, Patrick S  Lubs, Herbert A  Verloes, Alain  May, Melanie M  Risheg, Hiba  Friez, Michael J  Futreal, P Andrew  Edkins, Sarah  Teague, Jon  Briault, Sylvain  Skinner, Cindy  Bauer-Carlin, Astrid  Simensen, Richard J  Joseph, Sumy M  Jones, Julie R  Gecz, Josef  Stratton, Michael R  Raymond, F Lucy  Stevenson, Roger E 
Citation: Schwartz CE, etal., J Med Genet. 2007 Jul;44(7):472-7. Epub 2007 Mar 16.
RGD ID: 12910949
Pubmed: PMID:17369503   (View Abstract at PubMed)
PMCID: PMC2597996   (View Article at PubMed Central)
DOI: DOI:10.1136/jmg.2006.048637   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
syndromic X-linked intellectual disorder Lujan-Fryns-type  IAGP 12910949DNA:missense mutation:cds:p.N1007S(human)RGD 
syndromic X-linked intellectual disorder Lujan-Fryns-type  ISOMED12 (Homo sapiens)12910949; 12910949DNA:missense mutation:cds:p.N1007S(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Med12  (mediator complex subunit 12)

Genes (Mus musculus)
Med12  (mediator complex subunit 12)

Genes (Homo sapiens)
MED12  (mediator complex subunit 12)


Additional Information