Literature DB >> 18798845

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

R Day1, B Beckett, D Donnai, A Fryer, M Heidenblad, P Howard, B Kerr, S Mansour, U Maye, S McKee, S Mohammed, E Sweeney, M Tassabehji, B B A de Vries, J Clayton-Smith.   

Abstract

We report a series of eight patients with the Say/Barber/Biesecker/Young-Simpson (SBBYS) type of Ohdo syndrome, which is the largest cohort described to date. We expand on the type, frequency and severity of the clinical characteristics in this condition; comment on the natural history of Ohdo syndrome and further refine previously published diagnostic criteria. Cytogenetic investigations and microarray CGH analysis undertaken in this cohort of patients failed to identify a chromosomal aetiology. It remains possible that this rare condition is heterogeneous and therefore caution must be undertaken during counselling until the underlying genetic mechanism(s) is (are) identified.

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Mesh：

Year:  2008        PMID： 18798845     DOI： 10.1111/j.1399-0004.2008.01087.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  9 in total

1.  Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Authors:  Jill Clayton-Smith; James O'Sullivan; Sarah Daly; Sanjeev Bhaskar; Ruth Day; Beverley Anderson; Anne K Voss; Tim Thomas; Leslie G Biesecker; Philip Smith; Alan Fryer; Kate E Chandler; Bronwyn Kerr; May Tassabehji; Sally-Ann Lynch; Malgorzata Krajewska-Walasek; Shane McKee; Janine Smith; Elizabeth Sweeney; Sahar Mansour; Shehla Mohammed; Dian Donnai; Graeme Black
Journal:  Am J Hum Genet       Date:  2011-11-11       Impact factor: 11.025

2.  Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome.

Authors:  Jessica Merritt; Joseph C Hart; Tracy L LeGrow
Journal:  BMJ Case Rep       Date:  2017-07-14

3.  Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

Authors:  Philippe M Campeau; Jaeseung C Kim; James T Lu; Jeremy A Schwartzentruber; Omar A Abdul-Rahman; Silke Schlaubitz; David M Murdock; Ming-Ming Jiang; Edward J Lammer; Gregory M Enns; William J Rhead; Jon Rowland; Stephen P Robertson; Valérie Cormier-Daire; Matthew N Bainbridge; Xiang-Jiao Yang; Marie-Claude Gingras; Richard A Gibbs; David S Rosenblatt; Jacek Majewski; Brendan H Lee
Journal:  Am J Hum Genet       Date:  2012-01-19       Impact factor: 11.025

4.  An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.

Authors:  Hung-Chun Yu; Elizabeth A Geiger; Livija Medne; Elaine H Zackai; Tamim H Shaikh
Journal:  Am J Med Genet A       Date:  2014-01-23       Impact factor: 2.802

5.  De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome.

Authors:  Malene Lundsgaard; Vang Q Le; Anja Ernst; Hans C Laugaard-Jacobsen; Kirsten Rasmussen; Inge S Pedersen; Michael B Petersen
Journal:  Mol Syndromol       Date:  2016-11-05

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.  Further delineation of the KAT6B molecular and phenotypic spectrum.

Authors:  Tamsin Gannon; Rahat Perveen; Hélene Schlecht; Simon Ramsden; Beverley Anderson; Bronwyn Kerr; Ruth Day; Siddharth Banka; Mohnish Suri; Siren Berland; Michael Gabbett; Alan Ma; Stan Lyonnet; Valerie Cormier-Daire; Rüstem Yilmaz; Guntram Borck; Dagmar Wieczorek; Britt-Marie Anderlid; Sarah Smithson; Julie Vogt; Heather Moore-Barton; Pelin Ozlem Simsek-Kiper; Isabelle Maystadt; Anne Destrée; Jessica Bucher; Brad Angle; Shehla Mohammed; Emma Wakeling; Sue Price; Amihood Singer; Yves Sznajer; Annick Toutain; Damien Haye; Ruth Newbury-Ecob; Melanie Fradin; Julie McGaughran; Beyhan Tuysuz; Mark Tein; Katelijne Bouman; Tabib Dabir; Jenneke Van den Ende; Ho Ming Luk; Daniela T Pilz; Jacqueline Eason; Sally Davies; Willie Reardon; Livia Garavelli; Orsetta Zuffardi; Koen Devriendt; Ruth Armstrong; Diana Johnson; Martine Doco-Fenzy; Emilia Bijlsma; Sheila Unger; Hermine E Veenstra-Knol; Jürgen Kohlhase; Ivan F M Lo; Janine Smith; Jill Clayton-Smith
Journal:  Eur J Hum Genet       Date:  2014-11-26       Impact factor: 4.246

Review 8.  The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

Authors:  Philippe M Campeau; James T Lu; Brian C Dawson; Ivo F A C Fokkema; Stephen P Robertson; Richard A Gibbs; Brendan H Lee
Journal:  Hum Mutat       Date:  2012-07-12       Impact factor: 4.878

9.  Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

Authors:  Lina Basel-Vanagaite; Bruno Dallapiccola; Ramiro Ramirez-Solis; Alexandra Segref; Holger Thiele; Andrew Edwards; Mark J Arends; Xavier Miró; Jacqueline K White; Julie Désir; Marc Abramowicz; Maria Lisa Dentici; Francesca Lepri; Kay Hofmann; Adi Har-Zahav; Edward Ryder; Natasha A Karp; Jeanne Estabel; Anna-Karin B Gerdin; Christine Podrini; Neil J Ingham; Janine Altmüller; Gudrun Nürnberg; Peter Frommolt; Sonia Abdelhak; Metsada Pasmanik-Chor; Osnat Konen; Richard I Kelley; Mordechai Shohat; Peter Nürnberg; Jonathan Flint; Karen P Steel; Thorsten Hoppe; Christian Kubisch; David J Adams; Guntram Borck
Journal:  Am J Hum Genet       Date:  2012-11-29       Impact factor: 11.025
  9 in total

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