]> 2026-07-31T07:51:24+00:00 WBR0385 0 en X-linked dominant Alport Syndrome (AS) can be inherited in an X-linked pattern due to a mutation in ''COL4A5''. Autosomal recessive Mutations in ''COL4A3'' and ''COL4A4'' that result in AS are usually inherited in an autosomal recessive pattern. Autosomal dominant Alport syndrome is rarely inherited in an autosomal dominant pattern. Mitochondrial Alport syndrome is not a mitochondrial disease. Examples of mitochondrial diseases are MELAS and MERRF. Polygenic Alport syndrome is not considered a polygenic disease. Common polygenic diseases include schizophrenia and heart disease. Polygenic disease refers to a disease in which multiple genetic loci are thought to contribute to disease risk in the same individual (many risk/protective alleles of low affect size). This concept is distinct from the idea of locus heterogeneity, where mutations in separate genes can cause the same Mendelian syndrome. Alport syndrome and hypertrophic cardiomyopathy are examples of Mendelian diseases with locus heterogeneity. Genetics A 12-year-old boy is brought by his mother to the physician’s office for red-colored urine. Upon further questioning, the mother explains that her son is deaf and has eye problems. The physician suspects a collagen disease. Genetic studies reveal a mutation of ''COL4A5'' the encodes collagen α chains. What is the most likely mode of inheritance of this patient’s condition? A Renal 2020-10-28T00:24:33Z 2459150.5170486 WBR0385