SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal  phenotypes

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.

Source: Kidney International - March 14, 2019 Category: Urology & Nephrology Authors: Jung-Hyun Kim, Eun Young Park, David Chitayat, David L. Stachura, J örg Schaper, Kristin Lindstrom, Tamison Jewett, Dagmar Wieczorek, Jos M. Draaisma, Margje Sinnema, Christianne Hoeberigs, Maja Hempel, Kristine K. Bachman, Andrea H. Seeley, Joshua K. St Tags: Clinical Investigation Source Type: research