| http://purl.uniprot.org/citations/33043632 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/33043632 | http://www.w3.org/2000/01/rdf-schema#comment | "Autosomal recessively inherited pathogenic variants in genes associated with the renin-angiotensin-aldosterone system (RAAS) result in early onset oligohydramnios and clinical features of the Potter sequence, typically in association with proximal renal tubules dysgenesis. We describe two siblings and a first cousin who had severe oligohydramnios in the second trimester, and presented at birth with loose skin, wide fontanelles and sutures, and pulmonary insufficiency. Two had refractory hypotension during their brief lives and one received palliative care after birth. All were found to have a homozygous nonsense variant, REN: c.891delG; p.Tyr287*, on exome sequencing. Autopsy limited to the genitourinary system in two of the children revealed normal renal tubular histology in both. Immunoblotting confirmed diminished expression of renin within cultured skin fibroblasts. To our knowledge, this is the first identification of an association between biallelic variants in REN and oligohydramnios in the absence of renal tubular dysgenesis. Due to its role in the RAAS, it has previously been proposed that the decreased expression of REN results in hypotension, ischemia, and decreased urine production. We suggest sequencing of genes in the RAAS, including REN, should be considered in cases of severe early onset oligohydramnios, even when renal morphology and histology are normal."xsd:string |
| http://purl.uniprot.org/citations/33043632 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.61780"xsd:string |
| http://purl.uniprot.org/citations/33043632 | http://purl.uniprot.org/core/author | "Wang J."xsd:string |
| http://purl.uniprot.org/citations/33043632 | http://purl.uniprot.org/core/author | "Hegele R.A."xsd:string |
| http://purl.uniprot.org/citations/33043632 | http://purl.uniprot.org/core/author | "Brown E."xsd:string |
| http://purl.uniprot.org/citations/33043632 | http://purl.uniprot.org/core/author | "Singh G."xsd:string |
| http://purl.uniprot.org/citations/33043632 | http://purl.uniprot.org/core/author | "Siu V.M."xsd:string |
| http://purl.uniprot.org/citations/33043632 | http://purl.uniprot.org/core/author | "Rupar C.A."xsd:string |
| http://purl.uniprot.org/citations/33043632 | http://purl.uniprot.org/core/author | "Dilliott A.A."xsd:string |
| http://purl.uniprot.org/citations/33043632 | http://purl.uniprot.org/core/author | "Clin M."xsd:string |
| http://purl.uniprot.org/citations/33043632 | http://purl.uniprot.org/core/author | "Shkrum M.J."xsd:string |
| http://purl.uniprot.org/citations/33043632 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/33043632 | http://purl.uniprot.org/core/name | "Am J Med Genet A"xsd:string |
| http://purl.uniprot.org/citations/33043632 | http://purl.uniprot.org/core/pages | "2284-2290"xsd:string |
| http://purl.uniprot.org/citations/33043632 | http://purl.uniprot.org/core/title | "A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin-angiotensin pathway, without renal tubular dysgenesis."xsd:string |
| http://purl.uniprot.org/citations/33043632 | http://purl.uniprot.org/core/volume | "182"xsd:string |
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