Molecular genetic analysis and clinical phenotype of a pedigree with familial dominant drusen / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 358-362, 2015.
Article
Dans Chinois
| WPRIM
| ID: wpr-239470
ABSTRACT
<p><b>OBJECTIVE</b>To analyze clinical features and mutations of EFEMP1 gene in a Chinese pedigree with familial dominant drusen.</p><p><b>METHODS</b>Clinical features of the pedigree were studied with fundus photography, fundus fluorescein angiography and optical coherence tomography. Molecular genetic analysis was performed on the patients and unaffected individuals from the family. All coding exons of the EFEMP1 gene were amplified by polymerase chain reaction (PCR) and sequenced. The results were compared with wild-type sequences from NCBI. The proband who had suffered from choroidal neovascularization and preretinal hemorrhage received an intravitreal injection of an anti-vascular endothelial growth factor (VEGF) preparation.</p><p><b>RESULTS</b>A heterozygous mutation C>T (R345W) was identified in exon 10 of the EFEMP1 gene in two affected individuals from the family. The same mutation was not detected in unaffected family members and 100 healthy individuals. Postoperative follow-up of the patient receiving intravitreal injection of anti-VEGF drug showed that visual acuity was improved and fundus appeared to be stable.</p><p><b>CONCLUSION</b>The R345W mutation in EFEMP1 is responsible for the dominant drusen in this family. Intravitreal injection of anti-VEGF drug is a promising treatment for the improvement in vision.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Druses de la rétine
/
Exons
/
Protéines de la matrice extracellulaire
/
Mutation faux-sens
/
Facteur de croissance endothéliale vasculaire de type A
/
Asiatiques
/
Gènes dominants
Type d'étude:
Étude pronostique
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2015
Type:
Article
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