Abstract:
:Genetic syndromes involving both brain and eye abnormalities are numerous and include syndromes such as Warburg micro syndrome, Kaufman oculocerebrofacial syndrome, Cerebro-oculo-facio-skeletal syndrome, Kahrizi syndrome and others. Using exome sequencing, we have been able to identify homozygous mutation p.(Tyr39Cys) in MED25 as the cause of a syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability in seven patients from four unrelated families, all originating from the same village. The protein encoded by MED25 belongs to Mediator complex or MED complex, which is an evolutionary conserved multi-subunit RNA polymerase II transcriptional regulator complex. The MED25 point mutation is located in the von Willebrand factor type A (MED25 VWA) domain which is responsible for MED25 recruitment into the Mediator complex; co-immunoprecipitation experiment demonstrated that this mutation dramatically impairs MED25 interaction with the Mediator complex in mammalian cells.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Basel-Vanagaite L,Smirin-Yosef P,Essakow JL,Tzur S,Lagovsky I,Maya I,Pasmanik-Chor M,Yeheskel A,Konen O,Orenstein N,Weisz Hubshman M,Drasinover V,Magal N,Peretz Amit G,Zalzstein Y,Zeharia A,Shohat M,Straussberg R,Montdoi
10.1007/s00439-015-1541-xsubject
Has Abstractpub_date
2015-06-01 00:00:00pages
577-87issue
6eissn
0340-6717issn
1432-1203journal_volume
134pub_type
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