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A novel variant in MED12 gene: Further delineation of phenotype
Author(s) -
Narayanan Dhanya L.,
Phadke Shubha R.
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38295
Subject(s) - phenotype , intellectual disability , exome sequencing , genetics , biology , gene , exome
MED12 is a multiprotein mediator complex, which has a role in cell growth and differentiation and has been implicated in three distinct X‐linked intellectual disability syndromes with distinctive clinical features. These include Opitz–Kaveggia syndrome (FG syndrome), Lujan syndrome, and X‐linked Ohdo syndrome. Recently MED12 variants have been implicated in isolated X‐linked intellectual disability. We describe a 5‐year‐old male patient with intellectual disability and facial dysmorphism and a novel variant in MED12 gene identified by Whole Exome Sequencing. His dysmorphic facial features are distinct from the previously described phenotypes. With a strong genotype–phenotype correlation that is already known for MED12 , this could be a new phenotype linked to MED12 , thus expanding the phenotypic spectrum of MED12 ‐related disorders.