| Literature DB >> 27545676 |
Mari J Tokita1, Alicia A Braxton1, Yunru Shao2, Andrea M Lewis2, Marie Vincent3, Sébastien Küry3, Thomas Besnard3, Bertrand Isidor4, Xénia Latypova3, Stéphane Bézieau3, Pengfei Liu1, Connie S Motter5, Catherine Ward Melver5, Nathaniel H Robin6, Elena M Infante7, Marianne McGuire8, Areeg El-Gharbawy7, Rebecca O Littlejohn9, Scott D McLean9, Weimin Bi1, Carlos A Bacino2, Seema R Lalani2, Daryl A Scott10, Christine M Eng11, Yaping Yang1, Christian P Schaaf12, Magdalena A Walkiewicz13.
Abstract
SON is a key component of the spliceosomal complex and a critical mediator of constitutive and alternative splicing. Additionally, SON has been shown to influence cell-cycle progression, genomic integrity, and maintenance of pluripotency in stem cell populations. The clear functional relevance of SON in coordinating essential cellular processes and its presence in diverse human tissues suggests that intact SON might be crucial for normal growth and development. However, the phenotypic effects of deleterious germline variants in SON have not been clearly defined. Herein, we describe seven unrelated individuals with de novo variants in SON and propose that deleterious variants in SON are associated with a severe multisystem disorder characterized by developmental delay, persistent feeding difficulties, and congenital malformations, including brain anomalies.Entities:
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Year: 2016 PMID： 27545676 PMCID： PMC5011061 DOI： 10.1016/j.ajhg.2016.06.035
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025