English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT

Released

Journal Article

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

MPS-Authors
/persons/resource/persons50437

Mundlos,  Stefan
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;
Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany;

/persons/resource/persons50391

Kornak,  Uwe
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;
Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany;
Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, Germany;

Locator
There are no locators available
Fulltext (public)

Castori.pdf
(Publisher version), 5MB

Supplementary Material (public)
There is no public supplementary material available
Citation

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.


Cite as: http://hdl.handle.net/21.11116/0000-0003-5CB0-F
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.