Journal article
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
V Shashi, LDM Pena, K Kim, B Burton, M Hempel, K Schoch, M Walkiewicz, HM McLaughlin, M Cho, N Stong, SE Hickey, CM Shuss, A Bacino, BH Lee, A Balasubramanyam, LC Burrage, GD Clark, WJ Craigen, SU Dhar, LT Emrick Show all
American Journal of Human Genetics | CELL PRESS | Published : 2016
Abstract
The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated in causing Bohring-Opitz and Bainbridge-Ropers syndromes, which result in overlapping features of severe intellectual disability and dysmorphic features. ASXL2 has not yet been associated with a human Mendelian disorder. In this study, we performed whole-exome sequencing in six unrelated probands with developmental delay, macrocephaly, and dysmorphic features. All six had de novo truncating varia..
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Awarded by National Institutes of Health
Funding Acknowledgements
We are grateful to the inidividuals and their families who contributed to this study and allowed us to publish their information and pictures. We thank I. Jantke for skillful technical assistance. This work was supported by the Undiagnosed Diseases Network (1U01HG007672-01 to V.S.) and the Deutsche Forschungsgemeinschaft (KO 4576/1-1 to F.K.). The authors disclose the following: the Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from molecular testing offered at the Baylor Genetics Laboratories (M.W.); D.B.G. has received consultancy fees and has equity ownership in Pairnomix LLC; H.M.M. and M.C. are employees of GeneDx; B.B. has received honoraria, consulting fees, or funding for clinical trials from Sanofi- Genzyme, Shire, Biomarin, Ultragenyx, Alexion, Armagen, and ReGenX Bio; and E.A.A. from the Undiagnosed Diseases Network is a co-founder of Personalis Inc.