Novel Genetic Diagnoses in Septo-Optic Dysplasia.
ARID1A
SHH
SOX2
septo-optic dysplasia
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
28 06 2022
28 06 2022
Historique:
received:
04
06
2022
revised:
23
06
2022
accepted:
27
06
2022
entrez:
27
7
2022
pubmed:
28
7
2022
medline:
29
7
2022
Statut:
epublish
Résumé
Septo-optic dysplasia (SOD) is a developmental phenotype characterized by midline neuroradiological anomalies, optic nerve hypoplasia, and pituitary anomalies, with a high degree of variability and additional systemic anomalies present in some cases. While disruption of several transcription factors has been identified in SOD cohorts, most cases lack a genetic diagnosis, with multifactorial risk factors being thought to play a role. Exome sequencing in a cohort of families with a clinical diagnosis of SOD identified a genetic diagnosis in 3/6 families, de novo variants in
Identifiants
pubmed: 35885948
pii: genes13071165
doi: 10.3390/genes13071165
pmc: PMC9320703
pii:
doi:
Substances chimiques
Superoxide Dismutase
EC 1.15.1.1
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NEI NIH HHS
ID : R01 EY015518
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY025718
Pays : United States
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