A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
Korean Journal of Ophthalmology
; : 249-255, 2015.
Article
de En
| WPRIM
| ID: wpr-89401
Bibliothèque responsable:
WPRO
ABSTRACT
PURPOSE: To describe clinical findings in a Korean family with Axenfeld-Rieger syndrome. METHODS: A retrospective review of clinical data about patients with diagnosed Axenfeld-Rieger syndrome. Five affected members of the family underwent a complete ophthalmologic examination. We screened the forkhead box C1 gene and the pituitary homeobox 2 gene in patients. Peripheral blood leukocytes and buccal mucosal epithelial cells were obtained from seven members of a family with Axenfeld-Rieger syndrome. DNA was extracted and amplified by polymerase chain reaction, followed by direct sequencing. RESULTS: The affected members showed iris hypoplasia, iridocorneal adhesions, posterior embryotoxon, and advanced glaucoma in three generation. None had systemic anomalies. Two mutations including c.1362_1364insCGG and c.1142_1144insGGC were identified in forkhead box C1 in four affected family members. CONCLUSIONS: This study may help to understand clinical findings and prognosis for patients with Axenfeld-Rieger syndrome.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Pedigree
/
Facteurs de transcription
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ADN
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Analyse de mutations d'ADN
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Malformations oculaires
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Dépistage génétique
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Études rétrospectives
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Protéines à homéodomaine
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Facteurs de transcription Forkhead
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Pôle antérieur du bulbe oculaire
Type d'étude:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
Limites du sujet:
Aged
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Aged80
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Female
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Humans
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Male
langue:
En
Texte intégral:
Korean Journal of Ophthalmology
Année:
2015
Type:
Article