Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island.
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
12 2023
12 2023
Historique:
revised:
08
08
2023
received:
12
06
2023
accepted:
09
08
2023
medline:
8
11
2023
pubmed:
24
8
2023
entrez:
23
8
2023
Statut:
ppublish
Résumé
This study reports variants in BBS1 and BBS7 in patients with Bardet-Biedl syndrome from the Canadian Maritime provinces. The BBS1 variant NM_024649.5:c.1169T>G was identified as a recurrent variant in Prince Edward Island.
Substances chimiques
Microtubule-Associated Proteins
0
Bbs1 protein, human
0
Types de publication
Letter
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
713-715Informations de copyright
© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
Deveault C, Billingsley G, Duncan JL, et al. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat. 2011;32(6):610-619.
Webb MP, Dicks EL, Green JS, et al. Autosomal recessive Bardet-Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders. Kidney Int. 2009;76(2):215-223.
Forsythe E, Kenny J, Bacchelli C, Beales PL. Managing Bardet-Biedl syndrome-now and in the future. Front Pediatr. 2018;6:23.
Mykytyn K, Nishimura DY, Searby CC, et al. Evaluation of complex inheritance involving the common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet. 2003;72(2):429-437.
Cring MR, Meyer KJ, Searby CC, et al. Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model. Gene Ther. 2022;29(5):227-235.