Literature DB >> 12923869

Blepharocheilodontic (BCD) syndrome: expanding the phenotype?

Vera Lúcia Gil da Silva Lopes1, Maria Leine Guion-Almeida, Elaine Sbroggio de Oliveira Rodini.   

Abstract

We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed. Copyright 2003 Wiley-Liss, Inc.

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Year:  2003        PMID： 12923869     DOI： 10.1002/ajmg.a.20223

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


  4 in total

1.  DLX4 is associated with orofacial clefting and abnormal jaw development.

Authors:  Di Wu; Shyamali Mandal; Alex Choi; August Anderson; Michaela Prochazkova; Hazel Perry; Vera L Gil-Da-Silva-Lopes; Richard Lao; Eunice Wan; Paul Ling-Fung Tang; Pui-yan Kwok; Ophir Klein; Bian Zhuan; Anne M Slavotinek
Journal:  Hum Mol Genet       Date:  2015-05-07       Impact factor: 6.150

2.  Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Authors:  Anneke Kievit; Federico Tessadori; Hannie Douben; Ingrid Jordens; Madelon Maurice; Jeannette Hoogeboom; Raoul Hennekam; Sheela Nampoothiri; Hülya Kayserili; Marco Castori; Margo Whiteford; Connie Motter; Catherine Melver; Michael Cunningham; Anne Hing; Nancy M Kokitsu-Nakata; Siulan Vendramini-Pittoli; Antonio Richieri-Costa; Annette F Baas; Corstiaan C Breugem; Karen Duran; Maarten Massink; Patrick W B Derksen; Wilfred F J van IJcken; Leontine van Unen; Fernando Santos-Simarro; Pablo Lapunzina; Vera L Gil-da Silva Lopes; Elaine Lustosa-Mendes; Max Krall; Anne Slavotinek; Victor Martinez-Glez; Jeroen Bakkers; Koen L I van Gassen; Annelies de Klein; Marie-José H van den Boogaard; Gijs van Haaften
Journal:  Eur J Hum Genet       Date:  2018-01-18       Impact factor: 4.246

3.  Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

Authors:  Reham Alharatani; Athina Ververi; Ana Beleza-Meireles; Weizhen Ji; Emily Mis; Quinten T Patterson; John N Griffin; Nabina Bhujel; Caitlin A Chang; Abhijit Dixit; Monica Konstantino; Christopher Healy; Sumayyah Hannan; Natsuko Neo; Alex Cash; Dong Li; Elizabeth Bhoj; Elaine H Zackai; Ruth Cleaver; Diana Baralle; Meriel McEntagart; Ruth Newbury-Ecob; Richard Scott; Jane A Hurst; Ping Yee Billie Au; Marie Therese Hosey; Mustafa Khokha; Denise K Marciano; Saquib A Lakhani; Karen J Liu
Journal:  Hum Mol Genet       Date:  2020-07-21       Impact factor: 6.150

Review 4.  Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Authors:  Joana Figueiredo; Soraia Melo; Patrícia Carneiro; Ana Margarida Moreira; Maria Sofia Fernandes; Ana Sofia Ribeiro; Parry Guilford; Joana Paredes; Raquel Seruca
Journal:  J Med Genet       Date:  2019-01-19       Impact factor: 6.318
  4 in total

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