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

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

Siddaramappa J Patil  1 , Puneeth H Somashekar  2 , Anju Shukla  2 , Satish Siddaiah  3 , Venkatraman Bhat  4 , Katta M Girisha  2 , Pooja N Rao  1
Affiliations
Case Reports

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

Siddaramappa J Patil et al. J Pediatr Genet. 2017 Sep.

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.

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Conflict of interest statement

Conflict of Interest None.

Figures

Fig. 1
Fig. 1
( A ) (III.1) Triangular face, high forehead, thick eyebrows, arched and medial end broad; blepharophimosis, mild left side ptosis, telecanthus, wide nasal ridge (mild), small ala nasi, short smooth philtrum, low-set ears, small mouth, and micrognathia. ( B ) (III.2) Round face, high forehead, thick eyebrows, arched, wide nasal bridge, bilateral ptosis (left > right), blepharophimosis, downslanting eyes, telecanthus, hypertelorism, small nose, anteverted nostrils, somewhat thick ala nasi, long smooth philtrum, open mouth, micrognathia, and low-set ears. ( C ) Pedigree showing inheritance pattern and individual partial Sanger sequences show hemizygous variant, c.887G > A in exon 7 of MED12 in affected individuals (patients 1 and 2). Mother is heterozygous carrier for the variant whereas father has wild-type allele.
See this image and copyright information in PMC

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