约85%AS病人为性连锁显性遗传（XLinkedAS，XLAS），致病基因定位于X染色体长臂中段Xq22，为编码Ⅳ型胶原α5链（COL4A5）基因突变所致；其余病人为常染色体隐性遗传（autosomalrecessiveAS，ARAS）和常染色体显性遗传AS（autosomaldominantAS，ADAS），前者致病基因为COL4A3或COL4A4基因，而后者具有遗传多源性。
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