Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report.
Bardet-Biedl syndrome
bioinformatic analysis
case report
monogenic diabetes
oligogenic inheritance
whole exome sequencing
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2021
2021
Historique:
received:
06
02
2021
accepted:
31
08
2021
entrez:
25
10
2021
pubmed:
26
10
2021
medline:
26
10
2021
Statut:
epublish
Résumé
Juvenile-onset diabetes may occur in the context of a rare syndromic presentation, suggesting a monogenic etiology rather than a common multifactorial diabetes. In the present study, we report the case of a young diabetic Tunisian patient presenting learning problems, speech deficits, short stature, brachydactyly, and a normal weight. Whole exome sequencing analysis revealed five heterozygous genetic variants in
Identifiants
pubmed: 34691137
doi: 10.3389/fgene.2021.664963
pmc: PMC8526562
doi:
Types de publication
Case Reports
Langues
eng
Pagination
664963Informations de copyright
Copyright © 2021 Dallali, Kheriji, Kammoun, Mrad, Soltani, Trabelsi, Hamdi, Bahlous, Ben Ahmed, Mahjoub, Jamoussi, Abdelhak and Kefi.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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