Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes
| Autor: | Ying-Xia Cui, Xin-Yi Xia, Xiao-Jun Li, Er-Zhi Gao, Xiu-Xiu Wei, Ang Li, Xing Lv, Zheng-Kun Xia, Zhi-Hong Liu, Chun-Lin Gao, Jian-Hong Liu, Feng-Xia Liu, Asan |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Basement membrane Mutation Pathology medicine.medical_specialty urogenital system Glomerular basement membrane Biology medicine.disease medicine.disease_cause Phenotype Nephropathy 03 medical and health sciences 030104 developmental biology Focal segmental glomerulosclerosis medicine.anatomical_structure Genetics medicine Alport syndrome Molecular Biology Genetics (clinical) Kidney disease |
| Zdroj: | Cytogenetic and Genome Research. 154:30-36 |
| ISSN: | 1424-859X 1424-8581 |
| Popis: | Thin basement membrane nephropathy (TBMN), autosomal dominant Alport syndrome (ADAS), and focal segmental glomerulosclerosis (FSGS) are kidney diseases that differ in clinical diagnosis, treatment, and prognosis. Nevertheless, they may result from the same causative genes. Here, we report 3 COL4A4 heterozygous mutations (p.Gly208Arg, p.Ser513Glufs*2, and p.Met1617Cysfs*39) that lead to 3 different collagen type IV kidney disease phenotypes, manifesting as TBMN, ADAS, and FSGS. Using bioinformatics analyses and pedigree verification, we show that these novel variants are pathogenetic and cosegregate with TBMN, ADAS, and FSGS. Furthermore, we found that the collagen type IV-associated kidney disease phenotypes are heterogeneous, with overlapping pathology and genetic mutations. We propose that COL4A4-associated TBMN, ADAS, and FSGS should be considered as collagen type IV kidney disease subtypes that represent different phases of disease progression. |
| Databáze: | OpenAIRE |
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