The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family
| Autor: | Zhi-Hong Liu, Ying-Xia Cui, Jian-Hong Liu, Asan, Xing Lv, Er-Zhi Gao, Ang Li, Feng-Xia Liu, Xiu-Xiu Wei, Chun-Lin Gao, Zheng-Kun Xia, Xin-Yi Xia, Xiao-Jun Li |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Genetics 030105 genetics & heredity Biology urologic and male genital diseases Compound heterozygosity medicine.disease Familial hematuria Digenic inheritance female genital diseases and pregnancy complications 03 medical and health sciences 030104 developmental biology Col4a5 gene medicine Alport syndrome Chinese family Molecular Biology Genetics (clinical) |
| Zdroj: | Cytogenetic and Genome Research. 154:132-136 |
| ISSN: | 1424-859X 1424-8581 |
| Popis: | Mutations in the COL4A5 gene result in X-linked Alport syndrome, homozygous or compound heterozygous mutations in COL4A3 or COL4A4 are responsible for autosomal recessive Alport syndrome, and heterozygous mutations in COL4A3 or COL4A4 cause autosomal dominant Alport syndrome or benign familial hematuria. Recently, the existence of a digenic inheritance in Alport syndrome has been demonstrated. We here report heterozygous COL4A3 and COL4A4 digenic mutations in cis responsible for benign familial hematuria. Using bioinformatics analyses and pedigree verification, we showed that COL4A4 c.1471C>T and COL4A3 c.3418 + 1G>T variants in cis are pathogenic and co-segregate with the benign familial hematuria. This result suggests that COL4A3 and COL4A4 digenic mutations in cis mimicking an autosomal dominant inheritance should be considered as a novel inheritance pattern of benign familial hematuria, although the disease-causing mechanism remains unknown. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|