Molecular genetic analysis and clinical phenotype of a pedigree with familial dominant drusen.
- VernacularTitle:一个家族性显性玻璃膜疣家系的临床表型及分子遗传学分析
- Author:
Ting ZHANG
1
;
Xuelu XIE
;
Zhibing ZENG
;
Dan MENG
;
Fang LU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; Base Sequence; Exons; Extracellular Matrix Proteins; genetics; Female; Genes, Dominant; Humans; Male; Molecular Sequence Data; Mutation, Missense; Pedigree; Retinal Drusen; genetics; metabolism; Vascular Endothelial Growth Factor A; metabolism; Young Adult
- From: Chinese Journal of Medical Genetics 2015;32(3):358-362
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze clinical features and mutations of EFEMP1 gene in a Chinese pedigree with familial dominant drusen.
METHODSClinical 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.
RESULTSA 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.
CONCLUSIONThe 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.
