Dataset Information

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

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.

SUBMITTER: Tokita MJ

PROVIDER: S-EPMC5011061 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature

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De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

Tokita Mari J MJ Braxton Alicia A AA Shao Yunru Y Lewis Andrea M AM Vincent Marie M Küry Sébastien S Besnard Thomas T Isidor Bertrand B Latypova Xénia X Bézieau Stéphane S Liu Pengfei P Motter Connie S CS Melver Catherine Ward CW Robin Nathaniel H NH Infante Elena M EM McGuire Marianne M El-Gharbawy Areeg A Littlejohn Rebecca O RO McLean Scott D SD Bi Weimin W Bacino Carlos A CA Lalani Seema R SR Scott Daryl A DA Eng Christine M CM Yang Yaping Y Schaaf Christian P CP Walkiewicz Magdalena A MA

American journal of human genetics 20160818 3

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 ...[more]

PMID: 27545676

Dataset Information

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

Publications

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

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