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  A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome

Castori, M., Ott, C.-E., Bisceglia, L., Leone, M. P., Mazza, T., Castellana, S., et al. (2018). A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. American Journal of Medical Genetics Part A, 176(9), 2028-2033. doi:10.1002/ajmg.a.40379.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0003-5CB0-F Version Permalink: http://hdl.handle.net/21.11116/0000-0003-5CB1-E
Genre: Journal Article

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 Creators:
Castori, Marco, Author
Ott, Claus-Eric, Author
Bisceglia, Luigi, Author
Leone, Maria Pia, Author
Mazza, Tommaso, Author
Castellana, Stefano, Author
Tomassi, Jurgen, Author
Lanciotti, Silvia, Author
Mundlos, Stefan1, 2, Author              
Hennekam, Raoul C., Author
Kornak, Uwe1, 2, 3, Author              
Brancati, Francesco, Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany, ou_persistent22              
3Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, Germany, ou_persistent22              

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Free keywords: Branchioskeletogenital; CDH11; Cadherin-11; Elsahy-Waters
 Abstract: Abstract Cadherins are cell-adhesion molecules that control morphogenesis, cell migration, and cell shape changes during multiple developmental processes. Until now four distinct cadherins have been implicated in human Mendelian disorders, mainly featuring skin, retinal and hearing manifestations. Branchio-skeleto-genital (or Elsahy-Waters) syndrome (BSGS) is an ultra-rare condition featuring a characteristic face, premature loss of teeth, vertebral and genital anomalies, and intellectual disability. We have studied two sibs with BSGS originally described by Castori et al. in 2010. Exome sequencing led to the identification of a novel homozygous nonsense variant in the first exon of the cadherin-11 gene (CDH11), which results in a prematurely truncated form of the protein. Recessive variants in CDH11 have been recently demonstrated in two other sporadic patients and a pair of sisters affected by BSGS. Although the function of this cadherin (also termed Osteoblast-Cadherin) is not completely understood, its prevalent expression in osteoblastic cell lines and up-regulation during differentiation suggest a specific function in bone formation and development. This study identifies a novel loss-of-function variant in CDH11 as a cause of BSGS and supports the role of cadherin-11 as a key player in axial and craniofacial malformations.

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Language(s): eng - English
 Dates: 2018-09-082018-09
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1002/ajmg.a.40379
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Title: American Journal of Medical Genetics Part A
Source Genre: Journal
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Publ. Info: Hoboken, N.J. : Wiley-Liss
Pages: 6 Volume / Issue: 176 (9) Sequence Number: - Start / End Page: 2028 - 2033 Identifier: ISSN: 1552-4825
CoNE: https://pure.mpg.de/cone/journals/resource/954925476465