A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family
A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family
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COL4A3 基因的新杂合突变导致中国家庭中不存在血尿和肾功能损害的特殊表型
DOI：
10.1155/2019/8705989
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发表时间：
2019-02
期刊：
影响因子：
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通讯作者：
Yin Shankai
中科院分区：
文献类型：
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作者：
Xia Liang;Cao Yangjia;Guo Yang;Ba Guangyi;Luo Qiong;Shi Haibo;Feng Yanmei;Yin Shankai
Mutations in theCOL4A3gene are frequently reported to be associated with various types of hereditary nephropathy.COL4A3encodes theα3 chain of type IV collagen, which is the main structural protein in the basement membrane. Mutations in this gene are always related to kidney performance, and deafness and ocular lesion have also been reported. In this study, using next-generation sequencing, we investigated the DNA of a family visiting a clinic for hearing loss. A new missense mutation was found inCOL4A3of 5 patients, c.3227CT (p.P1076L). Based on these results, we predict that the mutation is pathogenic and leads to abnormal collagen IV. Here, we report for the first time on this autosomal dominant syndrome, characterized by hearing loss and eye abnormalities, but without renal damage, in all carriers. Since the oldest patient in the trial was less than 50 years old, however, we recommend that renal examination be reviewed regularly. Our results reveal expansion in the mutation spectrum of theCOL4A3gene and phenotypic spectrum of collagen IV disease. Our study suggests that next-generation sequencing is an economical and effective method and may help in the accurate diagnosis and treatment of these patients.
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影响因子：
2
作者：
R. Dmochowski
通讯作者：
R. Dmochowski
DOI：
10.1016/j.respe.2020.09.004
发表时间：
2020-10-10
期刊：
Revue D'Epidemiologie et De Sante Publique
影响因子：
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作者：
La rédaction
通讯作者：
La rédaction
影响因子：
2.3
作者：
Lin F;Bian F;Zou J;Wu X;Shan J;Lu W;Yao Y;Jiang G;Gale DP
通讯作者：
Gale DP
影响因子：
9.3
作者：
通讯作者：
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