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  Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Kolanczyk, M., Krawitz, P., Hecht, J., Hupalowska, A., Miaczynska, M., Marschner, K., et al. (2015). Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. European journal of human genetics, 23: 720. doi:10.1038/ejhg.2014.109.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-7892-7 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-002A-60EF-C
Genre: Journal Article

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© 2014 European Society of Human Genetics
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 Creators:
Kolanczyk, M.1, Author              
Krawitz, P.2, Author
Hecht, J.1, Author              
Hupalowska, A., Author
Miaczynska, M., Author
Marschner, K., Author
Schlack, C., Author
Emerich, D.2, Author
Kobus, K., Author
Kornak, U.1, Author              
Robinson, P. N.1, Author              
Plecko, B., Author
Grangl, G., Author
Uhrig, S., Author
Mundlos, S.1, Author              
Horn, D., Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Max Planck Society, ou_persistent13              

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 Abstract: Ritscher-Schinzel syndrome (RSS)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by intellectual disability, cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. A recent study of a Canadian cohort identified homozygous sequence variants in the KIAA0196 gene, which encodes the WASH complex subunit strumpellin, as a cause for a form of RSS/3C syndrome. We have searched for genetic causes of a phenotype similar to RSS/3C syndrome in an Austrian family with two affected sons. To search for disease-causing variants, whole-exome sequencing (WES) was performed on samples from two affected male children and their parents. Before WES, CGH array comparative genomic hybridization was applied. Validation of WES and segregation studies was done using routine Sanger sequencing. Exome sequencing detected a missense variant (c.1670A>G; p.(Tyr557Cys)) in exon 15 of the CCDC22 gene, which maps to chromosome Xp11.23. Western blots of immortalized lymphoblastoid cell lines (LCLs) from the affected individual showed decreased expression of CCDC22 and an increased expression of WASH1 but a normal expression of strumpellin and FAM21 in the patients cells. We identified a variant in CCDC22 gene as the cause of an X-linked phenotype similar to RSS/3C syndrome in the family described here. A hypomorphic variant in CCDC22 was previously reported in association with a familial case of syndromic X-linked intellectual disability, which shows phenotypic overlap with RSS/3C syndrome. Thus, different inactivating variants affecting CCDC22 are associated with a phenotype similar to RSS/3C syndrome.European Journal of Human Genetics advance online publication, 11 June 2014; doi:10.1038/ejhg.2014.109.

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Language(s): eng - English
 Dates: 2014-06-112015
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1038/ejhg.2014.109
ISSN: 1476-5438 (Electronic)1018-4813 (Print)
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Title: European journal of human genetics
  Other : Eur. J. Hum. Genet.
Source Genre: Journal
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Affiliations:
Publ. Info: Nature Publishing Group
Pages: - Volume / Issue: 23 Sequence Number: 720 Start / End Page: - Identifier: ISSN: 1018-4813
CoNE: https://pure.mpg.de/cone/journals/resource/954925585277_1