Literature DB >> 28794916

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

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

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.

Entities:  

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

Year:  2017        PMID： 28794916      PMCID： PMC5548526          DOI： 10.1055/s-0037-1602386

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  13 in total

Review 1.  MED12 related disorders.

Authors:  John M Graham; Charles E Schwartz
Journal:  Am J Med Genet A       Date:  2013-10-10       Impact factor: 2.802

Review 2.  Two additional cases of the Ohdo blepharophimosis syndrome.

Authors:  A Maat-Kievit; H G Brunner; P Maaswinkel-Mooij
Journal:  Am J Med Genet       Date:  1993-11-01

3.  Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.

Authors:  Bertrand Isidor; Tiphaine Lefebvre; Claudine Le Vaillant; Gaëlle Caillaud; Laurence Faivre; Frédéric Jossic; Madeleine Joubert; Norbert Winer; Cédric Le Caignec; Guntram Borck; Anna Pelet; Jeanne Amiel; Annick Toutain; Nathalie Ronce; Martine Raynaud; Alain Verloes; Albert David
Journal:  Am J Med Genet A       Date:  2014-04-08       Impact factor: 2.802

4.  Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

Authors:  Alain Verloes; Dominique Bremond-Gignac; Bertrand Isidor; Albert David; Clarisse Baumann; Marie-Anne Leroy; René Stevens; Yves Gillerot; Delphine Héron; Bénédicte Héron; Brigitte Benzacken; Didier Lacombe; Han Brunner; Pierre Bitoun
Journal:  Am J Med Genet A       Date:  2006-06-15       Impact factor: 2.802

5.  Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

Authors:  Katherine G Langley; Jordan Brown; Richard J Gerber; Janelle Fox; Michael J Friez; Michael Lyons; Samantha A Schrier Vergano
Journal:  Am J Med Genet A       Date:  2015-09-04       Impact factor: 2.802

6.  Mutations in MED12 cause X-linked Ohdo syndrome.

Authors:  Anneke T Vulto-van Silfhout; Bert B A de Vries; Bregje W M van Bon; Alexander Hoischen; Martina Ruiterkamp-Versteeg; Christian Gilissen; Fangjian Gao; Marloes van Zwam; Cornelis L Harteveld; Anthonie J van Essen; Ben C J Hamel; Tjitske Kleefstra; Michèl A A P Willemsen; Helger G Yntema; Hans van Bokhoven; Han G Brunner; Thomas G Boyer; Arjan P M de Brouwer
Journal:  Am J Hum Genet       Date:  2013-02-07       Impact factor: 11.025

7.  A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

Authors:  K M Girisha; A Shukla; D Trujillano; G S Bhavani; M Hebbar; R Kadavigere; A Rolfs
Journal:  Clin Genet       Date:  2016-03-15       Impact factor: 4.438

8.  Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Authors:  Gaetan Lesca; Marie-Pierre Moizard; Gerald Bussy; Dominique Boggio; Hao Hu; Stefan A Haas; Hans-Hilger Ropers; Vera M Kalscheuer; Vincent Des Portes; Audrey Labalme; Damien Sanlaville; Patrick Edery; Martine Raynaud; James Lespinasse
Journal:  Am J Med Genet A       Date:  2013-08-16       Impact factor: 2.802

9.  Two male sibs with severe micrognathia and a missense variant in MED12.

Authors:  Trine E Prescott; Mari Ann Kulseth; Ketil R Heimdal; Barbro Stadheim; Einar Hopp; Tomasz Gambin; Zeynep H Coban Akdemir; Shalini N Jhangiani; Donna M Muzny; Richard A Gibbs; James R Lupski; Asbjørg Stray-Pedersen
Journal:  Eur J Med Genet       Date:  2016-06-07       Impact factor: 2.708

10.  Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth.

Authors:  S Ohdo; H Madokoro; T Sonoda; K Hayakawa
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318
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  1 in total

1.  MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.

Authors:  Luca Rocchetti; Eloisa Evangelista; Luigia De Falco; Giovanni Savarese; Pasquale Savarese; Raffaella Ruggiero; Luigi D'Amore; Alberto Sensi; Antonio Fico
Journal:  Genes (Basel)       Date:  2021-08-27       Impact factor: 4.096
  1 in total

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