Deletion of the Paired α5(IV) and α6(IV) Collagen Genes in Inherited Smooth Muscle Tumors

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Abstract
The gene encoding α6(IV) collagen, COL4A6 , was identified on the human X chromosome in a head-to-head arrangement and within 452 base pairs of the α5(IV) collagen gene, COL4A5 . In earlier studies, intragenic deletions of COL4A5 were detected in a subset of patients with Alport syndrome (AS), a hereditary defect of basement membranes. In some families, AS cosegregates with diffuse leiomyomatosis (DL), a benign smooth muscle tumor diathesis. Here it is shown that patients with AS-DL harbor deletions that disrupt both COL4A5 and COL4A6 . Thus, type IV collagen may regulate smooth muscle differentiation and morphogenesis.