Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex

American Journal of Human Genetics

Volumn 87, Issue 5, 2010, Pages 667-670

  Kaufmann, Rami ^a,b,c   Straussberg, Rachel ^b,c   Mandel, Hanna ^d   Fattal Valevski, Aviva ^c,e   Ben Zeev, Bruria ^c,f   Naamati, Adi ^a   Shaag, Avraham ^a   Zenvirt, Shamir ^a   Konen, Osnat ^b,c   Mimouni Bloch, Aviva ^g   Dobyns, William B ^h   Edvardson, Simon ^a   Pines, Ophry ^a   Elpeleg, Orly ^a  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d MEYER CHILDREN S HOSPITAL   (Israel)

^e TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^f SHEBA MEDICAL CENTER   (Israel)

^g LOEWENSTEIN REHABILITATION HOSPITAL   (Israel)

^h UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE; PROLINE; PROTEIN MED17; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BRAIN ATROPHY; CAUCASIAN; CEREBELLUM ATROPHY; CHILD; CHROMOSOME 11; CLINICAL ARTICLE; CLINICAL FEATURE; DEMYELINATING DISEASE; DIAGNOSTIC IMAGING; EPILEPSY; FAMILY; FEMALE; FOUNDER EFFECT; GENE; HEAD CIRCUMFERENCE; HOMOZYGOSITY; HUMAN; INFANT; JEW; MALE; MED17 GENE; MICROCEPHALY; MISSENSE MUTATION; MYELINATION; NEUROIMAGING; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SACCHAROMYCES CEREVISIAE; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY; SYMPTOM;

ATROPHY; BRAIN; CEREBELLUM; CHROMOSOMES, HUMAN, PAIR 11; FOUNDER EFFECT; HOMOZYGOTE; HUMANS; INFANT; JEWS; MEDIATOR COMPLEX; MICROCEPHALY; MUTATION; NERVOUS SYSTEM DISEASES;

EID: 78249244149     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.09.016     Document Type: Article

References (10)

1. A.M. Kaindl, S. Passemard, P. Kumar, N. Kraemer, L. Issa, A. Zwirner, B. Gerard, A. Verloes, S. Mani, and P. Gressens Many roads lead to primary autosomal recessive microcephaly Prog. Neurobiol. 90 2010 363 383
2. S. Edvardson, A. Shaag, O. Kolesnikova, J.M. Gomori, I. Tarassov, T. Einbinder, A. Saada, and O. Elpeleg Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia Am. J. Hum. Genet. 81 2007 857 862
3. D. Seelow, J.M. Schwarz, and M. Schuelke GeneDistiller - distilling candidate genes from linkage intervals PLoS ONE 3 2008 e3874
4. R.D. Kornberg Mediator and the mechanism of transcriptional activation Trends Biochem. Sci. 30 2005 235 239
5. C.M. Thompson, and R.A. Young General requirement for RNA polymerase II holoenzymes in vivo Proc. Natl. Acad. Sci. USA 92 1995 4587 4590
6. M. Boube, C. Faucher, L. Joulia, D.L. Cribbs, and H.M. Bourbon Drosophila homologs of transcriptional mediator complex subunits are required for adult cell and segment identity specification Genes Dev. 14 2000 2906 2917
7. A. Leal, K. Huehne, F. Bauer, H. Sticht, P. Berger, U. Suter, B. Morera, G. Del Valle, J.R. Lupski, and A. Ekici Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models Neurogenetics 10 2009 275 287
8. H. Risheg, J.M. Graham Jr., R.D. Clark, R.C. Rogers, J.M. Opitz, J.B. Moeschler, A.P. Peiffer, M. May, S.M. Joseph, and J.R. Jones A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome Nat. Genet. 39 2007 451 453
9. C.E. Schwartz, P.S. Tarpey, H.A. Lubs, A. Verloes, M.M. May, H. Risheg, M.J. Friez, P.A. Futreal, S. Edkins, and J. Teague The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene J. Med. Genet. 44 2007 472 477
10. D. van Essen, B. Engist, G. Natoli, and S. Saccani Two modes of transcriptional activation at native promoters by NF-kappaB p65 PLoS Biol. 7 2009 e73