ArticleGenetics in medicine : official journal of the American College of Medical Genetics2025
Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Personalized Medicine in Pediatric Urology: From Diagnosis to Individualized Risk Assessment.Medical sciences (Basel, Switzerland) · 2026Review
- Article
- Vitamin D Deficiency Activates Gdnf-Ret-pErk1/2 Signal and Induces Kidney Malformations in Mice.International journal of molecular sciences · 2026Article
- Dose-Dependent and Non-Autonomous Signaling in CAKUT: A Lineage-Specific Framework from Conditional Knockout Studies.Biomolecules · 2026Review
- Article
- From Genes to Malformations: Molecular Mechanisms Driving the Pathogenesis of Congenital Anomalies of the Kidney and Urinary Tract.International journal of molecular sciences · 2025Review
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54 authors.
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Abstract
purposeCongenital anomalies of the kidney and urinary tract (CAKUT) encompass heterogenous malformations arising from defective nephrogenesis. To date, approximately 50 monogenic genes are known to cause CAKUT if mutated. Recent studies show the impact of de novo variants in genetic disease etiology. Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families.
methodsWe performed trio-based exome sequencing in 209 families with CAKUT to detect novel candidate disease genes.
resultsTrio analysis yielded in the identification of CAKUT candidate genes in 96 of 209 trio families (45.93%). In 41 of 209 cases, we detected strong de novo variants in 45 potential novel CAKUT candidate genes (19.62%). We developed a prioritization approach that highlights a truncating de novo variant in SOX13 (HGNC:11192) as a promising cause for CAKUT. In addition, further allele carriers for the candidate gene CHD1L (HGNC:1916) were identified, thus supporting the role of CHD1L in the pathogenesis of CAKUT.
conclusionWe conclude that de novo variants in potential novel CAKUT candidate genes contribute to the disease etiology and present SOX13 as a potential novel cause for CAKUT.
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