ArticleBMC nephrology2016
Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia and total colonic aganglionosis: a case report.
Article in BMC nephrology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- The genetic etiologies of bilateral renal agenesis.Prenatal diagnosis · 2024Review
- Article
- Pathological and clinical characteristics of late-onset oligomeganephronia based on a histomorphometric study.BMC nephrology · 2023Article
- A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism.Cellular and molecular gastroenterology and hepatology · 2023Article
- Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung disease.Pediatric nephrology (Berlin, Germany) · 2021Article
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Authors and funding
7 authors.
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Abstract
backgroundSeveral shared common gene networks participate in development of interstinal ganglia and also nephron formation; the glial cell line-derived neurotrophic factor/Ret/glial cell line-derived neurotrophic factor receptor gene network is particularly important. CASE PRESENTATION: We encountered a patient with total colonic aganglionosis as well as right renal agenesis and oligomeganephronia. Gene analysis in this patient disclosed a heterozygous p.S811F mutation was in Ret gene exon 14, resulting in a substitution of phenylalanine for serine. The large side chain of phenylalanine obstructed the opening of the hydrophobic pocket of the Ret molecule causing interference with its interaction with adenosine triphosphate and consequent marked reduction in its enzyme activity. This could account for our patient's severe intestinal disease and renal dysplasia. We know of no previous reports of concomitant Hirschsprung's disease and oligomeganephronia.
conclusionsThe patient's overall illness could be considered a novel Ret gene mutation syndrome.
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