Literature DB >> 24736737

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.

Federico di Rocco1, Geneviève Baujat2, Eric Arnaud1, Dominique Rénier1, Jean-Louis Laplanche3, Valérie Cormier Daire2, Corinne Collet3.   

Abstract

TCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring novel TCF12 mutations. We observed a broad interfamilial phenotypic spectrum with features overlapping with the Saethre-Chotzen syndrome. TCF12 molecular testing should be considered in patients with unilateral- or bilateral-coronal synostosis associated or not with syndactyly, after having excluded mutations in the TWIST1 gene and the p.Pro250Arg mutation in FGFR3.

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Year:  2014        PMID： 24736737      PMCID： PMC4231413          DOI： 10.1038/ejhg.2014.57

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  8 in total

1.  Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Authors:  Andrew O M Wilkie; Jo C Byren; Jane A Hurst; Jayaratnam Jayamohan; David Johnson; Samantha J L Knight; Tracy Lester; Peter G Richards; Stephen R F Twigg; Steven A Wall
Journal:  Pediatrics       Date:  2010-07-19       Impact factor: 7.124

2.  A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Authors:  M Muenke; K W Gripp; D M McDonald-McGinn; K Gaudenz; L A Whitaker; S P Bartlett; R I Markowitz; N H Robin; N Nwokoro; J J Mulvihill; H W Losken; J B Mulliken; A E Guttmacher; R S Wilroy; L A Clarke; G Hollway; L C Adès; E A Haan; J C Mulley; M M Cohen; G A Bellus; C A Francomano; D M Moloney; S A Wall; A O Wilkie
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

3.  Craniosynostosis.

Authors:  David Johnson; Andrew O M Wilkie
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

4.  Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.

Authors:  Wolfram Kress; Christian Schropp; Gabriele Lieb; Birgit Petersen; Maria Büsse-Ratzka; Jürgen Kunz; Edeltraut Reinhart; Wolf-Dieter Schäfer; Johanna Sold; Florian Hoppe; Jan Pahnke; Andreas Trusen; Niels Sörensen; Jürgen Krauss; Hartmut Collmann
Journal:  Eur J Hum Genet       Date:  2006-01       Impact factor: 4.246

Review 5.  Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

Authors:  Wanda Lattanzi; Nenad Bukvic; Marta Barba; Gianpiero Tamburrini; Camilla Bernardini; Fabrizio Michetti; Concezio Di Rocco
Journal:  Childs Nerv Syst       Date:  2012-08-08       Impact factor: 1.475

6.  Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.

Authors:  D Renier; V El-Ghouzzi; J Bonaventure; M Le Merrer; E Lajeunie
Journal:  J Neurosurg       Date:  2000-04       Impact factor: 5.115

7.  Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.

Authors:  Vikram P Sharma; Aimée L Fenwick; Mia S Brockop; Simon J McGowan; Jacqueline A C Goos; A Jeannette M Hoogeboom; Angela F Brady; Nu Owase Jeelani; Sally Ann Lynch; John B Mulliken; Dylan J Murray; Julie M Phipps; Elizabeth Sweeney; Susan E Tomkins; Louise C Wilson; Sophia Bennett; Richard J Cornall; John Broxholme; Alexander Kanapin; David Johnson; Steven A Wall; Peter J van der Spek; Irene M J Mathijssen; Robert E Maxson; Stephen R F Twigg; Andrew O M Wilkie
Journal:  Nat Genet       Date:  2013-01-27       Impact factor: 38.330

Review 8.  Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

Authors:  Roger H Woods; Ehtesham Ul-Haq; Andrew O M Wilkie; Jayaratnam Jayamohan; Peter G Richards; David Johnson; Tracy Lester; Steven A Wall
Journal:  Plast Reconstr Surg       Date:  2009-06       Impact factor: 5.169
  8 in total
  14 in total

1.  Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly: letter to the editor.

Authors:  Guillaume Coll; Federico Di Rocco
Journal:  Childs Nerv Syst       Date:  2015-04-18       Impact factor: 1.475

Review 2.  Clinical genetics of craniosynostosis.

Authors:  Andrew O M Wilkie; David Johnson; Steven A Wall
Journal:  Curr Opin Pediatr       Date:  2017-12       Impact factor: 2.856

3.  TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

Authors:  Erica E Davis; Ravikumar Balasubramanian; Zachary A Kupchinsky; David L Keefe; Lacey Plummer; Kamal Khan; Blazej Meczekalski; Karen E Heath; Vanesa Lopez-Gonzalez; Mary J Ballesta-Martinez; Gomathi Margabanthu; Susan Price; James Greening; Raja Brauner; Irene Valenzuela; Ivon Cusco; Paula Fernandez-Alvarez; Margaret E Wierman; Taibo Li; Kasper Lage; Priscila Sales Barroso; Yee-Ming Chan; William F Crowley; Nicholas Katsanis
Journal:  Hum Mol Genet       Date:  2020-08-11       Impact factor: 6.150

Review 4.  Genetic advances in craniosynostosis.

Authors:  Wanda Lattanzi; Marta Barba; Lorena Di Pietro; Simeon A Boyadjiev
Journal:  Am J Med Genet A       Date:  2017-02-04       Impact factor: 2.802

Review 5.  Syndromic Craniosynostosis: Complexities of Clinical Care.

Authors:  Justine O'Hara; Federica Ruggiero; Louise Wilson; Greg James; Graeme Glass; Owase Jeelani; Juling Ong; Richard Bowman; Michelle Wyatt; Robert Evans; Martin Samuels; Richard Hayward; David J Dunaway
Journal:  Mol Syndromol       Date:  2019-01-16

6.  Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis.

Authors:  Araceli Cuellar; Krithi Bala; Lorena Di Pietro; Marta Barba; Garima Yagnik; Jia Lie Liu; Christina Stevens; David J Hur; Roxann G Ingersoll; Cristina M Justice; Hicham Drissi; Jinoh Kim; Wanda Lattanzi; Simeon A Boyadjiev
Journal:  Bone       Date:  2020-04-30       Impact factor: 4.398

7.  Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

Authors:  Jacqueline A C Goos; Aimee L Fenwick; Sigrid M A Swagemakers; Simon J McGowan; Samantha J L Knight; Stephen R F Twigg; A Jeannette M Hoogeboom; Marieke F van Dooren; Frank J Magielsen; Steven A Wall; Irene M J Mathijssen; Andrew O M Wilkie; Peter J van der Spek; Ans M W van den Ouweland
Journal:  Hum Mutat       Date:  2016-06-02       Impact factor: 4.878

8.  TCF12 microdeletion in a 72-year-old woman with intellectual disability.

Authors:  Juliette Piard; Virginie Rozé; Alain Czorny; Marion Lenoir; Mylène Valduga; Aimée L Fenwick; Andrew O M Wilkie; Lionel Van Maldergem
Journal:  Am J Med Genet A       Date:  2015-04-13       Impact factor: 2.802

9.  On the traces of tcf12: Investigation of the gene expression pattern during development and cranial suture patterning in zebrafish (Danio rerio).

Authors:  Rabea Blümel; Miriam Zink; Eva Klopocki; Daniel Liedtke
Journal:  PLoS One       Date:  2019-06-12       Impact factor: 3.240

10.  Language Impairments in ASD Resulting from a Failed Domestication of the Human Brain.

Authors:  Antonio Benítez-Burraco; Wanda Lattanzi; Elliot Murphy
Journal:  Front Neurosci       Date:  2016-08-29       Impact factor: 5.152
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