Biallelic Pathogenic
Alleles
Congenital Abnormalities
/ genetics
Exome
Female
Genes, Recessive
Genetic Counseling
Genetic Predisposition to Disease
Genetic Variation
Genome, Human
Glial Cell Line-Derived Neurotrophic Factor Receptors
/ genetics
Homozygote
Humans
Kidney
/ abnormalities
Kidney Diseases
/ congenital
Male
Mutation
Pedigree
Sequence Analysis, DNA
Urinary Tract
/ pathology
gene expression
genetics and development
renal agenesis
Journal
Journal of the American Society of Nephrology : JASN
ISSN: 1533-3450
Titre abrégé: J Am Soc Nephrol
Pays: United States
ID NLM: 9013836
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
20
04
2020
accepted:
30
08
2020
pubmed:
7
10
2020
medline:
8
7
2021
entrez:
6
10
2020
Statut:
ppublish
Résumé
Congenital anomalies of the kidney and urinary tract (CAKUT) are one of the most common malformations identified in the fetal stage. Bilateral renal agenesis (BRA) represents the most severe and fatal form of CAKUT. Only three genes have been confirmed to have a causal role in humans ( Genome sequencing within a diagnostic setting and combined data repository analysis identified a novel gene. Two patients presented with BRA, detected during the prenatal period, without additional recognizable malformations. They had parental consanguinity and similarly affected, deceased siblings, suggesting autosomal recessive inheritance. Evaluation of homozygous regions in patient 1 identified a novel, nonsense variant in These findings strongly support the causal role of
Sections du résumé
BACKGROUND
Congenital anomalies of the kidney and urinary tract (CAKUT) are one of the most common malformations identified in the fetal stage. Bilateral renal agenesis (BRA) represents the most severe and fatal form of CAKUT. Only three genes have been confirmed to have a causal role in humans (
METHODS
Genome sequencing within a diagnostic setting and combined data repository analysis identified a novel gene.
RESULTS
Two patients presented with BRA, detected during the prenatal period, without additional recognizable malformations. They had parental consanguinity and similarly affected, deceased siblings, suggesting autosomal recessive inheritance. Evaluation of homozygous regions in patient 1 identified a novel, nonsense variant in
CONCLUSIONS
These findings strongly support the causal role of
Identifiants
pubmed: 33020172
pii: 00001751-202101000-00022
doi: 10.1681/ASN.2020040478
pmc: PMC7894660
doi:
Substances chimiques
GFRA1 protein, human
0
Glial Cell Line-Derived Neurotrophic Factor Receptors
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
223-228Informations de copyright
Copyright © 2021 by the American Society of Nephrology.
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