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Alport syndrome-diffuse leiomyomatosis is a rare type of X-linked Alport syndrome resulting from contiguous deletions of 5′ exons of  COL4A5  and  COL4A6 . Studies have suggested that the occurrence of diffuse leiomyomatosis is associated with the characteristic localisation of the  COL4A6  gene deletion break point. An electronic database was searched for all studies accessing AS-DL to analyze the clinical characteristics, gene deletion break points of patients with AS-DL, and the pathogenesis of AS-DL. It was found that the proportion of  de novo  mutations of AS-DL was significantly higher in female probands than male probands (78 vs. 44%). Female patients with AS-DL had a mild clinical presentation. The incidence of proteinuria and ocular abnormalities was much lower in female probands than in male probands, and there was generally no sensorineural hearing loss or chronic kidney disease (CKD), which progressed to Stage 3 in female probands. The contiguous deletion of the 5' exons of  COL4A5  and  COL4A6 , with the break point within the intron 3 of  COL4A6 , was the critical genetic defect causing AS-DL. However, the pathogenesis of characteristic deletion of  COL4A6  that contributes to diffuse leiomyomatosis is still unknown. In addition, characteristic contiguous deletion of  COL4A5  and  COL4A6  genes in AS-DL may be related to transposed elements (TEs).

Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5