SAMN47618470
External Id
University of Padova
INSDC center name
2025-03-28T00:00:00Z
INSDC first public
2025-03-28T08:43:05.080Z
INSDC last update
live
INSDC status
Human
NCBI submission model
Human.1.0
NCBI submission package
years
age
university of Padova
biomaterial_provider
Leukocytes
cell_type
2023-07-22
collection_date
Background. Dent disease (DD) is an X-linked recessive renal disorder characterized by features of incomplete Fanconi syndrome. Hypercalciuria is commonly observed, sometimes associated with calcium nephrolithiasis, nephrocalcinosis, and/or hypophosphatemic rickets. The genetic bases of DD is not completely known. To date, 25-35% of DD cases lack mutations in CLCN5 and OCRL genes and are classified as DD type 3 (DD3). This case report adds information about the hypothesis supporting the DD3 phenotype as a blend phenotype due to rare variants in two or more genes of already known hereditary nephropathies.Case presentation. We describe a case of a young man with a renal phenotype resembling DD associated with nephrotic syndrome, focal segmental glomerulosclerosis (FSGS), tubular microcysts, and a family history that revealed a significant burden of kidney disease. Extra-renal phenotype with short stature, narrow chest, recurrent upper respiratory tract infections, teeth anomalies and hypertension was also present. Using the Whole Exome Sequencing technology we identified in the WT1 gene the heterozygous ultrarare (MAF < 0,001% in GnomADv 4.1) missense variant NM_024426.6:c.1088C>T (p.Thr363Met) in exon 6 classified as Variant of Uncertain Significance (VUS) never reported in the literature. We also identified in the EVC2 gene the heterozygous nonsense variant NM_147127.5:c.2833C>T p.(Arg945Ter) located in exon 17 (rs1301855639) classified as pathogenic.
description
Dent disease
disease
asian
ethnicity
Bangladesh
geo_loc_name
Blood
isolate
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
male
sex
Blood
tissue
Human sample from Homo sapiens
title