Please use this identifier to cite or link to this item:
https://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. |
DOI: | 10.1136/jmg.2006.048637 |
Published version: | http://jmg.bmj.com/cgi/content/abstract/44/7/472 |
Appears in Collections: | Aurora harvest 6 Genetics publications |
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