Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/44515
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Type: Journal article
Title: The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene
Author: Schwartz, C.
Tarpey, P.
Lubs, H.
Verloes, A.
May, M.
Risheg, H.
Friez, M.
Futreal, P.
Edkins, S.
Teague, J.
Briault, S.
Skinner, C.
Bauer-Carlin, A.
Simensin, R.
Joseph, S.
Jones, J.
Gecz, J.
Stratton, M.
Raymond, F.
Stevenson, R.
Citation: Journal of Medical Genetics, 2007; 44(7):472-477
Publisher: British Med Journal Publ Group
Issue Date: 2007
ISSN: 0022-2593
1468-6244
Statement of
Responsibility: 
Charles E Schwartz, Patrick S Tarpey, Herbert A Lubs, Alain Verloes, Melanie M May, Hiba Risheg, Michael J Friez, P Andrew Futreal, Sarah Edkins, Jon Teague, Sylvain Briault, Cindy Skinner, Astrid Bauer-Carlin, Richard J Simensen, Sumy M Joseph, Julie R Jones, Josef Gecz, Michael R Stratton, F Lucy Raymond, Roger E Stevenson
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.
Keywords: Humans; Mental Retardation, X-Linked; Abnormalities, Multiple; Receptors, Thyroid Hormone; Pedigree; Phenotype; Mutation, Missense; Male; Mediator Complex
Description: Copyright © 2007 by the BMJ Publishing Group Ltd.
RMID: 0020072464
DOI: 10.1136/jmg.2006.048637
Published version: http://jmg.bmj.com/cgi/content/abstract/44/7/472
Appears in Collections:Genetics publications

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