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  Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

Villavicencio-Lorini, P., Klopocki, E., Trimborn, M., Koll, R., Mundlos, S., & Horn, D. (2012). Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. European journal og human genetics: EJHG; the official journal of the European Society of Human Genetics, 2012, e-e. doi:10.1038/ejhg.2012.240.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-F27C-5 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-F27D-3
Genre: Journal Article

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© 2012 European Society of Human Genetics
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Villavicencio-Lorini, P.1, Author              
Klopocki, E.1, Author              
Trimborn, M.2, Author
Koll, R.2, Author
Mundlos, S.1, Author              
Horn, D.3, Author              
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1433557              
2Institute for Medical and Human Genetics, Campus Virchow Klinikum, Charité-Universitätsmedizin Berlin, Berlin, Germany, ou_persistent22              
3AG Deussing, Jan, Florian Holsboer (Direktor), Max Planck Institute of Psychiatry, Max Planck Society, München, Germany, ou_1607145              

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 Abstract: Deletions of the chromosomal region 2q37 cause brachydactyly-mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome. Recently, histone deacetylase 4 (HDAC4) haploinsufficiency has been postulated to be the critical genetic mechanism responsible for the main clinical characteristics of the BDMR syndrome like developmental delay and behavioural abnormalities in combination with brachydactyly type E (BDE). We report here on the first three generation familial case of BDMR syndrome with inheritance of an interstitial microdeletion of chromosome 2q37.3. The deletion was detected by array comparative genomic hybridization and comprises the HDAC4 gene and two other genes. The patients of this pedigree show a variable severity of psychomotor and behavioural abnormalities in combination with a specific facial dysmorphism but without BDE. Given that only about half of the patients with 2q37 deletions have BDE; we compared our patients with other patients carrying 2q37.3 deletions or HDAC4 mutations known from the literature to discuss the diagnostic relevance of the facial dysmorphism pattern in 2q37.3 deletion cases involving the HDAC4 gene. We conclude that HDAC4 haploinsufficiency is responsible for psychomotor and behavioural abnormalities in combination with the BDMR syndrome-specific facial dysmorphism pattern and that these clinical features have a central diagnostic relevance.European Journal of Human Genetics advance online publication, 28 November 2012; doi:10.1038/ejhg.2012.240.

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 Dates: 2012-11-28
 Publication Status: Published online
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 Rev. Method: Peer
 Identifiers: DOI: 10.1038/ejhg.2012.240
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Title: European journal og human genetics : EJHG ; the official journal of the European Society of Human Genetics
  Other : Eur J Hum Genet
Source Genre: Journal
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Publ. Info: Basel : Karger
Pages: - Volume / Issue: 2012 Sequence Number: - Start / End Page: e - e Identifier: ISSN: 1018-4813
CoNE: /journals/resource/954925585277_2