title: A novel MED12 mutation associated with non-specific X-linked intellectual disability.
abstract: The mediator complex subunit 12 gene (MED12) is responsible for an X-linked recessive intellectual disability syndrome that is characterized by dysmorphic features such as a long, narrow face and blepharophimosis, which is now recognized as an MED12-related syndrome. We identified a novel non-synonymous single-nucleotide variant, p.Ile1023Val, in a male patient with non-specific X-linked intellectual disability (XLID). Our results, together with the existence of similar reports, suggest a relationship between MED12 variants and XLID.
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
authors.forename: Toshiyuki
authors.identifier: 0000-0002-9484-3505
authors.initials: T
authors.lastname: Yamamoto
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima