A de novo truncating mutation in ASXL1 associated with segmental overgrowth
Author:
Funder
Wellcome Trust
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://link.springer.com/content/pdf/10.1007/s12041-019-1155-5.pdf
Reference10 articles.
1. Arunachal G., Danda S., Omprakash S. and Kumar S. 2016 A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome. Clin. Dysmorphol. 25, 101–105.
2. Bedoukian E., Copenheaver D., Bale S. and Deardorff M. 2018 Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother. Am. J. Med. Genet. Part A 176, 1249–1252.
3. Carlston C. M., O’Donnell-Luria A. H., Underhill H. R., Cummings B. B., Weisburd B, Minikel E. V. et al. 2017 Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. Hum. Mutat. 38, 517–523.
4. Dangiolo S. B., Wilson A., Jobanputra V. and Anyane-Yeboa K. 2015 Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. Am. J. Med. Genet. Part A 167a, 3161–3166.
5. Hoischen A., van Bon B. W., Rodriguez-Santiago B., Gilissen C., Vissers L. E., de Vries P. et al. 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat. Genet. 43, 729–731.
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3. Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome;European Journal of Medical Genetics;2021-03
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