Implication of
CAKUT
FOXD2
PAX2
WNT4
chronic kidney disease
renal hypoplasia
Journal
medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986
Informations de publication
Date de publication:
22 Mar 2023
22 Mar 2023
Historique:
pubmed:
31
3
2023
medline:
31
3
2023
entrez:
30
3
2023
Statut:
epublish
Résumé
Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause for chronic kidney disease below 30 years of age. Many monogenic forms have been discovered mainly due to comprehensive genetic testing like exome sequencing (ES). However, disease-causing variants in known disease-associated genes still only explain a proportion of cases. Aim of this study was to unravel the underlying molecular mechanism of syndromic CAKUT in two multiplex families with presumed autosomal recessive inheritance. ES in the index individuals revealed two different rare homozygous variants in In summary, our data implicate that
Sections du résumé
Background
UNASSIGNED
Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause for chronic kidney disease below 30 years of age. Many monogenic forms have been discovered mainly due to comprehensive genetic testing like exome sequencing (ES). However, disease-causing variants in known disease-associated genes still only explain a proportion of cases. Aim of this study was to unravel the underlying molecular mechanism of syndromic CAKUT in two multiplex families with presumed autosomal recessive inheritance.
Methods and Results
UNASSIGNED
ES in the index individuals revealed two different rare homozygous variants in
Conclusions
UNASSIGNED
In summary, our data implicate that
Identifiants
pubmed: 36993625
doi: 10.1101/2023.03.21.23287206
pmc: PMC10055578
pii:
doi:
Types de publication
Preprint
Langues
eng
Déclaration de conflit d'intérêts
Competing interests The authors declare no competing interests.