Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant.
Child, Preschool
Female
Humans
Abnormalities, Multiple
/ diagnostic imaging
Antigens, Neoplasm
/ genetics
Cell Cycle Proteins
/ genetics
Cerebellum
/ pathology
Cytoskeletal Proteins
/ genetics
Eye Abnormalities
/ diagnostic imaging
Muscle Hypotonia
Phenotype
Polycystic Kidney Diseases
/ pathology
Retina
/ abnormalities
Siblings
Journal
Neuropediatrics
ISSN: 1439-1899
Titre abrégé: Neuropediatrics
Pays: Germany
ID NLM: 8101187
Informations de publication
Date de publication:
06 2023
06 2023
Historique:
medline:
10
5
2023
pubmed:
2
6
2022
entrez:
1
6
2022
Statut:
ppublish
Résumé
Joubert syndrome (JS) is a genetic neurodevelopmental disorder characterized by lower brainstem dysplasia and cerebellar vermis agenesis termed molar tooth sign (MTS), psychomotor retardation, abnormal respiratory pattern in infancy, and oculomotor abnormalities. Arima syndrome (AS), which is a severe form of JS, is characterized by severe psychomotor retardation, congenital visual impairment, progressive renal dysfunction, and lower brainstem dysplasia from early infancy. Numerous patients with AS expire in early childhood. Recently, c.6012-12T> A in the
Substances chimiques
Antigens, Neoplasm
0
Cell Cycle Proteins
0
Cep290 protein, human
0
Cytoskeletal Proteins
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
217-221Subventions
Organisme : Ministry of Health, Labor and Welfare of Japan Research on Rare and Intractable Diseases
ID : 28-Ippan-010
Organisme : Japan Agency for Medical Research and Development
ID : 16ek0109145h0002
Organisme : Japan Agency for Medical Research and Development
ID : 17ek0109145h0003
Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
None declared.