Variant-specific pathophysiological mechanisms of
Journal
medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986
Informations de publication
Date de publication:
17 Jan 2024
17 Jan 2024
Historique:
medline:
31
1
2024
pubmed:
31
1
2024
entrez:
31
1
2024
Statut:
epublish
Résumé
We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by Evolutionary constraints suggest that other mode-of-inheritance could be at play. We challenged this hypothesis by screening ID cohorts for individuals with predicted-to-be deleterious variants in We identified an individual with a KINSSHIP-like phenotype carrying a Our results and the high pleiotropy shown by variation at this locus suggest that minute changes in
Sections du résumé
Background
UNASSIGNED
We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by
Methods
UNASSIGNED
Evolutionary constraints suggest that other mode-of-inheritance could be at play. We challenged this hypothesis by screening ID cohorts for individuals with predicted-to-be deleterious variants in
Results
UNASSIGNED
We identified an individual with a KINSSHIP-like phenotype carrying a
Conclusions
UNASSIGNED
Our results and the high pleiotropy shown by variation at this locus suggest that minute changes in
Identifiants
pubmed: 38293053
doi: 10.1101/2024.01.14.24301100
pmc: PMC10827271
pii:
doi:
Types de publication
Preprint
Langues
eng