Mutation in alpha 5 chain of collagen 4. The diagnosis –
Correct Answer: Alpo's syndrome
Description: Answer is A (Alpo's syndrome):Most cases of Alpo's syndrome arise from a mutation or deletion of the COL4/A5 gene located on the X chromosome which codes for alpha 5 chain of type IV collagen - DavidsonAlpo's syndromeAlpo's syndrome is an inherited disorder charachterized by hereditary nephritis, senserineural deafness and ocular abnormalities.Alpo's syndrome is the most common hereditary nephritisQGenetic defect, PathologyPrimary pathology in Alpo's syndrome is an abnormality in type IV collagen (Type IV collagen is the predominant collagen in basement membrane)The most common form of Alpo's syndrome is due to mutation of the COLA4A5 (a 5 Chain) gene located on the X chromosomeQ.The most common inheritance pattern for Alpo's syndrome is X Linked - Classic Alpo's syndrome
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