Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.
OBJECTIVE
To identify mutations in FZD4 and LRP5 in 49 Chinese families with familial exudative vitreoretinopathy (FEVR) and to reveal the mutation spectrum and frequency of these genes in the Chinese population.


METHODS
Clinical data and genomic DNA were collected for patients from 49 families with FEVR. The coding exons and adjacent intronic regions of FZD4 and LRP5 were amplified with polymerase chain reaction, and the resulting amplicons were analyzed with Sanger sequencing.


RESULTS
Eleven mutations were detected in 11 of the 49 families (22.4%), including five mutations in the FZD4 gene in six families and six mutations in the LRP5 gene in five families. Of the 11 mutations, eight were novel. Two families had the same FZD4 mutation, and one family had compound heterozygous mutations in LRP5. The phenotypes of the patients with the mutations showed great variability.


CONCLUSIONS
Our findings provide an overview of the mutation spectrum and frequency of FZD4 and LRP5 in Chinese patients with FEVR and emphasize the complexity of FEVR mutations and phenotypes.
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, PR China.
Huiqin
H
Yang
Shiqiang
S
Li
Xueshan
X
Xiao
Panfeng
P
Wang
Xiangming
X
Guo
Qingjiong
Q
Zhang
D000293:Adolescent; D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005091:Exons; D000080345:Familial Exudative Vitreoretinopathies; D005260:Female; D051157:Frizzled Receptors / Q000235:genetics*; D005787:Gene Frequency; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D007223:Infant; D060492:Low Density Lipoprotein Receptor-Related Protein-5 / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D018630:Vitreoretinopathy, Proliferative / Q000235:genetics*
C402930:FZD4 protein, human; D051157:Frizzled Receptors; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5