Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
BNC2
LUTO
basonuclin 2
cloacae
distal pronephric outlet obstruction
functional genetics
lower urinary tract obstruction
posterior urethral valve
pronephric development
zebrafish
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
02 05 2019
02 05 2019
Historique:
received:
21
09
2018
accepted:
22
03
2019
entrez:
4
5
2019
pubmed:
6
5
2019
medline:
7
2
2020
Statut:
ppublish
Résumé
Congenital lower urinary-tract obstruction (LUTO) is caused by anatomical blockage of the bladder outflow tract or by functional impairment of urinary voiding. About three out of 10,000 pregnancies are affected. Although several monogenic causes of functional obstruction have been defined, it is unknown whether congenital LUTO caused by anatomical blockage has a monogenic cause. Exome sequencing in a family with four affected individuals with anatomical blockage of the urethra identified a rare nonsense variant (c.2557C>T [p.Arg853
Identifiants
pubmed: 31051115
pii: S0002-9297(19)30119-3
doi: 10.1016/j.ajhg.2019.03.023
pmc: PMC6506863
pii:
doi:
Substances chimiques
BNC2 protein, human
0
DNA-Binding Proteins
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
994-1006Subventions
Organisme : Medical Research Council
ID : MR/R006237/1
Pays : United Kingdom
Organisme : NIDDK NIH HHS
ID : R01 DK088767
Pays : United States
Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.
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