CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vítreous: a case report and literature review.
Mutación del gen CTNNB1 asociada a alteración del neurodesarrollo, microcefalia y persistencia del vítreo primario hiperplásico bilateral: reporte de un caso y revisión de la literatura.
CTNNB1 gene
Developmental disabilities
Discapacidades del desarrollo
Gen CTNNB1
Microcefalia
Microcephaly
Microftalmia
Microphthalmia
Persistence hyperplastic primary vítreous
Persistent fetal vasculature
Vasculatura fetal persistente
Vítreo primario hiperplásico persistente
Journal
Archivos de la Sociedad Espanola de Oftalmologia
ISSN: 2173-5794
Titre abrégé: Arch Soc Esp Oftalmol (Engl Ed)
Pays: Spain
ID NLM: 101715860
Informations de publication
Date de publication:
06 Feb 2021
06 Feb 2021
Historique:
received:
06
08
2020
revised:
24
11
2020
accepted:
25
11
2020
entrez:
10
2
2021
pubmed:
11
2
2021
medline:
11
2
2021
Statut:
aheadofprint
Résumé
The most cases of persistence hyperplastic primary vítreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vítreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.
Identifiants
pubmed: 33563475
pii: S0365-6691(21)00010-1
doi: 10.1016/j.oftal.2020.11.028
pii:
doi:
Types de publication
Case Reports
Langues
eng
spa
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2021 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.