Khan Arif O, Lenzner Steffen, Bolz Hanno J
a Eye Institute, Cleveland Clinic Abu Dhabi , Abu Dhabi , United Arab Emirates.
b Center for Human Genetics , Bioscientia , Ingelheim , Germany.
Ophthalmic Genet. 2017 Jul-Aug;38(4):380-382. doi: 10.1080/13816810.2016.1217551. Epub 2016 Sep 26.
To document recessive FZD4-related familial exudative vitreoretinopathy.
Retrospective case series.
Two brothers, the only two males among five siblings, had bilateral infantile retinal detachments and were referred for genetic counseling. Next-generation sequencing uncovered a homozygous FZD4 frameshift deletion in both affected brothers (c.40_49delCCCGGGGGCG; p.Pro14Serfs*44). None of the other immediate family members had clinical evidence for retinal disease, including the three family members who underwent confirmatory genetic testing and were found to be heterozygous for the mutation (both parents and one sister).
The findings in this family support the concept that some mutated FZD4 alleles can be associated with recessive rather than dominant disease.
记录隐性FZD4相关家族性渗出性玻璃体视网膜病变。
回顾性病例系列研究。
两兄弟是五名兄弟姐妹中仅有的两名男性，均患有双侧婴儿视网膜脱离，并因此接受遗传咨询。二代测序发现两名患病兄弟均存在纯合的FZD4移码缺失（c.40_49delCCCGGGGGCG；p.Pro14Serfs*44）。其他直系家庭成员均无视网膜疾病的临床证据，包括三名接受了验证性基因检测的家庭成员，他们被发现为该突变的杂合子（父母双方和一个妹妹）。
该家族的研究结果支持以下观点，即某些突变的FZD4等位基因可能与隐性而非显性疾病相关。
