RGD Reference Report - Mutations in MED12 cause X-linked Ohdo syndrome. - Rat Genome Database

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Mutations in MED12 cause X-linked Ohdo syndrome.

Authors: Vulto-van Silfhout, Anneke T  de Vries, Bert B A  van Bon, Bregje W M  Hoischen, Alexander  Ruiterkamp-Versteeg, Martina  Gilissen, Christian  Gao, Fangjian  van Zwam, Marloes  Harteveld, Cornelis L  van Essen, Anthonie J  Hamel, Ben C J  Kleefstra, Tjitske  Willemsen, Michèl A A P  Yntema, Helger G  van Bokhoven, Hans  Brunner, Han G  Boyer, Thomas G  de Brouwer, Arjan P M 
Citation: Vulto-van Silfhout AT, etal., Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7.
RGD ID: 12910951
Pubmed: PMID:23395478   (View Abstract at PubMed)
PMCID: PMC3591845   (View Article at PubMed Central)
DOI: DOI:10.1016/j.ajhg.2013.01.007   (Journal Full-text)

Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability (ID) and typical facial features, including blepharophimosis. Clinically, these blepharophimosis-ID syndromes have been classified in five distinct subgroups, including the Maat-Kievit-Brunner (MKB) type, which, in contrast to the others, is characterized by X-linked inheritance and facial coarsening at older age. We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type. In the two families, MED12 missense mutations (c.3443G>A [p.Arg1148His] or c.3493T>C [p.Ser1165Pro]) segregating with the phenotype were identified. Upon subsequent analysis of an additional cohort of nine simplex male individuals with Ohdo syndrome, one additional de novo missense change (c.5185C>A [p.His1729Asn]) in MED12 was detected. The occurrence of three different hemizygous missense mutations in three unrelated families affected by Ohdo syndrome MKB type shows that mutations in MED12 are the underlying cause of this X-linked form of Ohdo syndrome. Together with the recently described KAT6B mutations resulting in Ohdo syndrome Say/Barber/Biesecker/Young/Simpson type, our findings point to aberrant chromatin modification as being central to the pathogenesis of Ohdo syndrome.




  
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Original Reference(s)
MED12HumanOhdo Syndrome, X-Linked  IAGP DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human)RGD 
Med12MouseOhdo Syndrome, X-Linked  ISORGD:1350145DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human)RGD 
Med12RatOhdo Syndrome, X-Linked  ISORGD:1350145DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human)RGD 


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

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

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