Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
Eye Diseases
Genetic Testing
Mutation
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
30 Nov 2023
30 Nov 2023
Historique:
received:
12
03
2023
accepted:
25
09
2023
medline:
5
12
2023
pubmed:
5
12
2023
entrez:
5
12
2023
Statut:
aheadofprint
Résumé
Classic aniridia is a highly penetrant autosomal dominant disorder characterised by congenital absence of the iris, foveal hypoplasia, optic disc anomalies and progressive opacification of the cornea. >90% of cases of classic aniridia are caused by heterozygous, loss-of-function variants affecting the Short-read whole genome sequencing was performed on 51 (39 affected) individuals from 37 different families who had screened negative for mutations in the Likely causative mutations were identified in 22 out of 37 (59%) families. In 19 out of 22 families, the causative genomic changes have an interpretable deleterious impact on the Whole genome sequencing proves to be an effective diagnostic test in most individuals with previously unexplained aniridia.
Sections du résumé
BACKGROUND
BACKGROUND
Classic aniridia is a highly penetrant autosomal dominant disorder characterised by congenital absence of the iris, foveal hypoplasia, optic disc anomalies and progressive opacification of the cornea. >90% of cases of classic aniridia are caused by heterozygous, loss-of-function variants affecting the
METHODS
METHODS
Short-read whole genome sequencing was performed on 51 (39 affected) individuals from 37 different families who had screened negative for mutations in the
RESULTS
RESULTS
Likely causative mutations were identified in 22 out of 37 (59%) families. In 19 out of 22 families, the causative genomic changes have an interpretable deleterious impact on the
CONCLUSION
CONCLUSIONS
Whole genome sequencing proves to be an effective diagnostic test in most individuals with previously unexplained aniridia.
Identifiants
pubmed: 38050128
pii: jmg-2023-109181
doi: 10.1136/jmg-2023-109181
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.