Causes And Diagnosis Of Alport Syndrome

X-Linked Inheritance

Alport syndrome is a mutation of the COL4A5 gene of the X chromosome. Because males only have only one X chromosome, and women have two, men experience more severe symptoms with ALAS, since they only have one copy of the X chromosome to deal with the syndrome, and symptoms occur when it is compromised. A man with ALAS passes this genetic mutation on to potential daughters, but he would not pass it on to a son. A woman with AXAL has about a fifty percent chance of passing Alport syndrome on to their children, and only about ten to fifteen percent of AXAL mutations occur spontaneously or randomly, meaning neither parent has mutated alpha genes.

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