A novel variant in MED12 gene: Further delineation of phenotype

Dhanya L. Narayanan, Shubha R. Phadke

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)2257-2260
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number8
DOIs
Publication statusPublished - 08-2017

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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