Literature DB >> 18449934

Craniosynostosis in a patient with a de novo 15q15-q22 deletion.

Yoko Hiraki1, Miyuki Moriuchi, Nobuhiko Okamoto, Nobutsune Ishikawa, Yosuke Sugimoto, Kuniki Eguchi, Haruya Sakai, Hirotomo Saitsu, Takeshi Mizuguchi, Naoki Harada, Naomichi Matsumoto.   

Abstract

Interstitial deletions involving the chromosomal band 15q15 are very rare. A total of five cases were previously reported. Here another case of a 15q15.2-q22.2 deletion is reported, presenting with severe craniosynostosis of coronary, metopic, and sagittal sutures. The chromosome 15 with the 17.7-Mb deletion was of the paternal origin. A critical region for craniosynostosis may be located at the 734-kb segment at 15q15.2. Interestingly, the entire FBN1 gene was deleted in this patient.

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Year:  2008        PMID： 18449934     DOI： 10.1002/ajmg.a.32339

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  7 in total

1.  The clinical spectrum of complete FBN1 allele deletions.

Authors:  Yvonne Hilhorst-Hofstee; Ben C J Hamel; Joke B G M Verheij; Marry E B Rijlaarsdam; Grazia M S Mancini; Jan M Cobben; Cindy Giroth; Claudia A L Ruivenkamp; Kerstin B M Hansson; Janneke Timmermans; Henriette A Moll; Martijn H Breuning; Gerard Pals
Journal:  Eur J Hum Genet       Date:  2010-11-10       Impact factor: 4.246

2.  Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.

Authors:  Larissa V Furtado; Whitney Wooderchak-Donahue; Alan F Rope; Angela T Yetman; Tracey Lewis; Parker Plant; Pinar Bayrak-Toydemir
Journal:  BMC Med Genet       Date:  2011-09-21       Impact factor: 2.103

3.  Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene.

Authors:  Mileny Es Colovati; Luciana Rj da Silva; Sylvia S Takeno; Tatiane I Mancini; Ana R N Dutra; Roberta S Guilherme; Cláudia B de Mello; Maria I Melaragno; Ana B A Perez
Journal:  Mol Cytogenet       Date:  2012-01-19       Impact factor: 2.009

4.  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

5.  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

6.  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

7.  Clinical characteristics and surgical decision making for infants with metopic craniosynostosis in conjunction with other congenital anomalies.

Authors:  Craig B Birgfeld; Carrie L Heike; Babette S Saltzman; Anne V Hing
Journal:  Plast Reconstr Surg Glob Open       Date:  2013-11-07
  7 in total

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