ArticleAmerican journal of human genetics2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 65 citations in OpenAlex.
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- ZTTK Syndrome Expanding the Cardiac Phenotype: A Case of Shone's Complex With a NovelCase reports in genetics · 2026Article
- Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.Epilepsia · 2026Article
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- [Zhu-Tokita-Takenouchi-Kim syndrome in a neonate].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.Molecular genetics & genomic medicine · 2024Article
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- Recurrent myocardial injury in a de novo SON mutation ZTTK syndrome patient: a case report.BMC pediatrics · 2024Article
- Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins.Human genetics · 2024Review
- A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis.JCI insight · 2024Article
- Article
- Characterizing CD38 expression in terminally differentiated B cells using variable lymphocyte receptor B tetramers.Frontiers in immunology · 2024Article
- miR-889-3p Facilitates the Browning Process of White Adipocyte Precursors by Targeting theInternational journal of molecular sciences · 2023Article
- A mouse model of ZTTK syndrome reveals indispensable SON functions in organ development and hematopoiesis.bioRxiv : the preprint server for biology · 2023Article
- Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.Molecular genetics & genomic medicine · 2023Review
- Article
- Review
- Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.Frontiers in genetics · 2023Article
Corrections and comments
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Authors and funding
27 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.