Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation

Siddaramappa J Patil; Puneeth H Somashekar; Anju Shukla; Satish Siddaiah; Venkatraman Bhat; Katta M Girisha; Pooja N Rao

doi:10.1055/s-0037-1602386

Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation

J Pediatr Genet. 2017 Sep;6(3):198-204. doi: 10.1055/s-0037-1602386. Epub 2017 Apr 24.

Authors

Siddaramappa J Patil¹, Puneeth H Somashekar², Anju Shukla², Satish Siddaiah³, Venkatraman Bhat⁴, Katta M Girisha², Pooja N Rao¹

Affiliations

¹ Division of Genetics, Mazumdar Shaw Medical Center, Bangalore, India.
² Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
³ Department of Pediatric Cardiology, Narayana Institute of Cardiac Sciences, Bangalore, India.
⁴ Department of Radiology, Mazumdar Shaw Medical Center, Bangalore, India.

Abstract

Ohdo syndrome-Maat-Kievit-Brunner (OSMKB) type is an X-linked recessive disorder, a subtype of blepharophimosis-intellectual disability syndromes caused by mutations in the mediator complex subunit 12 ( MED12 ) gene. Here we report a familial OSMKB type with two affected siblings and mutation in MED12 gene.

Keywords: Ohdo syndrome–Maat-Kievit-Brunner type; blepharophimosis; congenital heart disease; high-place winged scapula; intellectual disability.

Publication types

Case Reports

Grants and funding

R21 NS094047/NS/NINDS NIH HHS/United States