Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity
Familial exudative vitreoretinopathy (FEVR) is an important cause of childhood blindness and is clinically characterized by phenotypic heterogeneity. FEVR patients harboring the same genetic mutation vary widely in disease severity. The purpose of this study was to explore non-genetic factors that r...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-10-01
|
| Series: | Frontiers in Medicine |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2022.976520/full |
| _version_ | 1798030787063316480 |
|---|---|
| author | Miaomiao Liu Jia Luo Huazhang Feng Jing Li Xiang Zhang Peiquan Zhao Ping Fei |
| author_facet | Miaomiao Liu Jia Luo Huazhang Feng Jing Li Xiang Zhang Peiquan Zhao Ping Fei |
| author_sort | Miaomiao Liu |
| collection | DOAJ |
| description | Familial exudative vitreoretinopathy (FEVR) is an important cause of childhood blindness and is clinically characterized by phenotypic heterogeneity. FEVR patients harboring the same genetic mutation vary widely in disease severity. The purpose of this study was to explore non-genetic factors that regulate FEVR phenotypic heterogeneity. We detected methylation levels of 21 CpG sites located at the FZD4 exon 1 region of 11 probands, 12 asymptomatic/paucisymptomatic carriers and 11 non-carriers from 10 unrelated FZD4-associated FEVR families using bisulfite amplicon sequencing (BSAS). Our results showed reduced methylation level of FZD4 exon 1 in probands, suggesting that FZD4 exon 1 methylation level may be negatively linked with FEVR disease severity. It provided a new research direction for follow-up research, helping us better understand the complexity of the FEVR-causing mechanism. |
| first_indexed | 2024-04-11T19:46:58Z |
| format | Article |
| id | doaj.art-534dd1973b8d44ba8d72e2031bcee68f |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-04-11T19:46:58Z |
| publishDate | 2022-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj.art-534dd1973b8d44ba8d72e2031bcee68f2022-12-22T04:06:27ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2022-10-01910.3389/fmed.2022.976520976520Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneityMiaomiao LiuJia LuoHuazhang FengJing LiXiang ZhangPeiquan ZhaoPing FeiFamilial exudative vitreoretinopathy (FEVR) is an important cause of childhood blindness and is clinically characterized by phenotypic heterogeneity. FEVR patients harboring the same genetic mutation vary widely in disease severity. The purpose of this study was to explore non-genetic factors that regulate FEVR phenotypic heterogeneity. We detected methylation levels of 21 CpG sites located at the FZD4 exon 1 region of 11 probands, 12 asymptomatic/paucisymptomatic carriers and 11 non-carriers from 10 unrelated FZD4-associated FEVR families using bisulfite amplicon sequencing (BSAS). Our results showed reduced methylation level of FZD4 exon 1 in probands, suggesting that FZD4 exon 1 methylation level may be negatively linked with FEVR disease severity. It provided a new research direction for follow-up research, helping us better understand the complexity of the FEVR-causing mechanism.https://www.frontiersin.org/articles/10.3389/fmed.2022.976520/fullfamilial exudative vitreoretinopathy (FEVR)the receptor frizzled-4 (FZD4)phenotypic heterogeneityDNA methylationepigenetics |
| spellingShingle | Miaomiao Liu Jia Luo Huazhang Feng Jing Li Xiang Zhang Peiquan Zhao Ping Fei Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity Frontiers in Medicine familial exudative vitreoretinopathy (FEVR) the receptor frizzled-4 (FZD4) phenotypic heterogeneity DNA methylation epigenetics |
| title | Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity |
| title_full | Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity |
| title_fullStr | Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity |
| title_full_unstemmed | Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity |
| title_short | Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity |
| title_sort | decrease of fzd4 exon 1 methylation in probands from fzd4 associated fevr family of phenotypic heterogeneity |
| topic | familial exudative vitreoretinopathy (FEVR) the receptor frizzled-4 (FZD4) phenotypic heterogeneity DNA methylation epigenetics |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2022.976520/full |
| work_keys_str_mv | AT miaomiaoliu decreaseoffzd4exon1methylationinprobandsfromfzd4associatedfevrfamilyofphenotypicheterogeneity AT jialuo decreaseoffzd4exon1methylationinprobandsfromfzd4associatedfevrfamilyofphenotypicheterogeneity AT huazhangfeng decreaseoffzd4exon1methylationinprobandsfromfzd4associatedfevrfamilyofphenotypicheterogeneity AT jingli decreaseoffzd4exon1methylationinprobandsfromfzd4associatedfevrfamilyofphenotypicheterogeneity AT xiangzhang decreaseoffzd4exon1methylationinprobandsfromfzd4associatedfevrfamilyofphenotypicheterogeneity AT peiquanzhao decreaseoffzd4exon1methylationinprobandsfromfzd4associatedfevrfamilyofphenotypicheterogeneity AT pingfei decreaseoffzd4exon1methylationinprobandsfromfzd4associatedfevrfamilyofphenotypicheterogeneity |