Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.

Abstract excerpt

The X-linked form of Alport disease, caused by mutations in the COL4A5 or the COL4A6 gene, usually leads to terminal renal failure in males, while affected females have a more variable and moderate phenotype. We detected in a female patient, with a severe Alport phenotype, two new missense mutati...

Topics

• Adult
• Alleles
• Amino Acid Sequence
• Base Sequence
• Collagen
• Dosage Compensation, Genetic
• Exons
• Female
• Genome, Human
• Heterozygote
• Humans
• Kidney
• Male
• Molecular Sequence Data
• Mutation
• Nephritis, Hereditary