A Novel Heterozygous Mutation of the <i>COL4A3</i> Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family

<div>(a) Heterozygous mutation from C to T in exon 38 of COL4A3 identified by sequence analysis. (b) Conservation analysis of the collagen type IV <i>α</i>3 chain p.Pro1076 amino acid residue. The result shows that the amino acids at this site are highly conservative, and the mutant amino acids might have a great influence on structure and function. (c) Schematic diagram of the molecular structure of type IV collagen in the organ of Corti and amino acid mutation sites in the <i>α</i>3 chain of type IV collagen. Type IV collagen is abundantly expressed in the basement membrane, and mutation will affect the structure and function of the whole cochlea.</div>

Disease Markers

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Figure 3: A Novel Heterozygous Mutation of the <i>COL4A3</i> Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family 

Figure 3 | A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family 