Clinical, genetic and biochemical signatures of
Eye Diseases
Genetics, Medical
Human Genetics
Inheritance Patterns
Ophthalmology
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
16 Aug 2023
16 Aug 2023
Historique:
received:
12
04
2023
accepted:
16
07
2023
medline:
17
8
2023
pubmed:
17
8
2023
entrez:
16
8
2023
Statut:
aheadofprint
Résumé
The retinoic acid (RA) pathway plays a crucial role in both eye morphogenesis and the visual cycle. Individuals with monoallelic and biallelic pathogenic variants in We report here seven new families (13 patients) with isolated and syndromic MAC harbouring heterozygous For the first time, malformations that overlap the clinical spectrum of vitamin A deficiency are reported, providing a link with other RA disorders. Our data support two distinct phenotypes, depending on the nature and mode of inheritance of the variants: dominantly inherited, almost exclusively missense, associated with ocular malformations, in contrast to recessive, mainly truncating, associated with retinal degeneration. Moreover, we also confirm the skewed inheritance and impact of maternal Dominant missense variants in
Sections du résumé
BACKGROUND
BACKGROUND
The retinoic acid (RA) pathway plays a crucial role in both eye morphogenesis and the visual cycle. Individuals with monoallelic and biallelic pathogenic variants in
METHODS
METHODS
We report here seven new families (13 patients) with isolated and syndromic MAC harbouring heterozygous
RESULTS
RESULTS
For the first time, malformations that overlap the clinical spectrum of vitamin A deficiency are reported, providing a link with other RA disorders. Our data support two distinct phenotypes, depending on the nature and mode of inheritance of the variants: dominantly inherited, almost exclusively missense, associated with ocular malformations, in contrast to recessive, mainly truncating, associated with retinal degeneration. Moreover, we also confirm the skewed inheritance and impact of maternal
CONCLUSION
CONCLUSIONS
Dominant missense variants in
Identifiants
pubmed: 37586836
pii: jmg-2023-109331
doi: 10.1136/jmg-2023-109331
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.