Wang Yanan, Chang Yujie, Lei Hongtao, Yan Weiyan, Chai Yuqiong, Zang Weiwei
Genetics and Prenatal Diagnosis Department, Luoyang Maternal and Child Health Hospital, Luoyang City, China.
Pediatric Ophthalmology Department, Luoyang Maternal and Child Health Hospital, Luoyang City, China.
BMC Pediatr. 2025 Feb 26;25(1):146. doi: 10.1186/s12887-025-05508-9.
Familial exudative vitreoretinopathy (FEVR) is an inherited disorder of retinal vascularization insufficiency caused primarily by genetic mutations. So far, FEVR has been less reported in the Chinese population. This study will provide a case of FEVR due to CTNNB1 splice mutation in a Chinese family, which will be helpful for genetic counseling and clinical diagnosis.
We collected a Chinese Han child with clinical manifestations of FEVR, accompanied by neurodevelopmental disorders. Whole exome sequencing (WES) showed the proband's CTNNB1 gene had a c.1060 + 1G > A de novo splicing mutation. Our analysis indicates that this variant produces a truncated protein that contributes to the development of the disease. Genetic testing confirmed the diagnosis of FEVR in proband from the study lineage. In addition, the proband also carries three novel gene mutation sites: the NIPBL gene c.3130G > A (p.Asp1044Asn), the CNGA1 gene c.568G > T (p.Glu190X), and the FBN2 gene c.5370A > G (p.Ile1790Met).
In this study, the c.1060 + 1G > A heterozygous mutation of the CTNNB1 gene is the main cause of FEVR disease in proband, and this pathogenic mutation expands the spectrum of CTNNB1 gene functional loss mutations in the Chinese population.
家族性渗出性玻璃体视网膜病变（FEVR）是一种主要由基因突变引起的视网膜血管化不足的遗传性疾病。到目前为止，FEVR在中国人群中的报道较少。本研究将报告一个中国家庭中因CTNNB1剪接突变导致的FEVR病例，这将有助于遗传咨询和临床诊断。
我们收集了一名具有FEVR临床表现且伴有神经发育障碍的中国汉族儿童。全外显子组测序（WES）显示先证者的CTNNB1基因存在c.1060+1G>A的新生剪接突变。我们的分析表明，该变异产生了一种截短蛋白，导致了疾病的发生。基因检测证实了该研究家系中先证者的FEVR诊断。此外，先证者还携带三个新的基因突变位点：NIPBL基因c.3130G>A（p.Asp1044Asn）、CNGA1基因c.568G>T（p.Glu190X）和FBN2基因c.5370A>G（p.Ile1790Met）。
在本研究中，CTNNB1基因的c.1060+1G>A杂合突变是先证者FEVR疾病的主要原因，这种致病突变扩展了中国人群中CTNNB1基因功能丧失突变的谱。
