ArticleKidney international2019
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.
Article in Kidney international, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 27 citations in OpenAlex.
- From Genes to Malformations: Molecular Mechanisms Driving the Pathogenesis of Congenital Anomalies of the Kidney and Urinary Tract.International journal of molecular sciences · 2025Review
- SON is an essential RNA splicing factor promoting ErbB2 and ErbB3 expression in breast cancer.British journal of cancer · 2024Article
- A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis.JCI insight · 2024Article
- 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
- A comprehensive transcriptomic analysis of the bisphenol A affected kidney in mice.Frontiers in molecular biosciences · 2023Article
- Novel malformations: Chiari type 1 and hydrocephalus in Zhu-Tokita-Takenouchi-Kim syndrome and novelClinical case reports · 2022Article
- Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.AJNR. American journal of neuroradiology · 2022Article
- A genotype-first analysis in a cohort of Mullerian anomaly.Journal of human genetics · 2022Article
- Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.European journal of human genetics : EJHG · 2022Article
- ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.American journal of medical genetics. Part A · 2021Article
- son is necessary for proper vertebrate blood development.PloS one · 2021Article
- Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.Molecular genetics & genomic medicine · 2020Article
- A novel frameshift variant in SON causes Zhu-Tokita-Takenouchi-Kim Syndrome.Journal of clinical laboratory analysis · 2020Article
- Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities.Molecular brain · 2020Article
- Expanding congenital abnormalities of the kidney and urinary tract (CAKUT) genetics: basonuclin 2 (BNC2) and lower urinary tract obstruction.Annals of translational medicine · 2019Article
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Authors and funding
26 authors at 15 institutions in 4 countries.
Funding
Abstract
Although genetic testing is increasingly used in clinical nephrology, a large number of patients with congenital abnormalities of the kidney and urinary tract (CAKUT) remain undiagnosed with current gene panels. Therefore, careful curation of novel genetic findings is key to improving diagnostic yields. We recently described a novel intellectual disability syndrome caused by de novo heterozygous loss-of-function mutations in the gene encoding the splicing factor SON. Here, we show that many of these patients, including two previously unreported, exhibit a wide array of kidney abnormalities. Detailed phenotyping of 14 patients with SON haploinsufficiency identified kidney anomalies in 8 patients, including horseshoe kidney, unilateral renal hypoplasia, and renal cysts. Recurrent urinary tract infections, electrolyte disturbances, and hypertension were also observed in some patients. SON knockdown in kidney cell lines leads to abnormal pre-mRNA splicing, resulting in decreased expression of several established CAKUT genes. Furthermore, these molecular events were observed in patient-derived cells with SON haploinsufficiency. Taken together, our data suggest that the wide spectrum of phenotypes in patients with a pathogenic SON mutation is a consequence of impaired pre-mRNA splicing of several CAKUT genes. We propose that genetic testing panels designed to diagnose children with a kidney phenotype should include the SON gene.
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