ArticlePediatric nephrology (Berlin, Germany)2011
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.
Article in Pediatric nephrology (Berlin, Germany), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 33 citations in OpenAlex.
- Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.Nature communications · 2026Article
- Systematic Review of Management Strategies for Alport Syndrome: Implications for Male Patients.Health science reports · 2025Review
- A case report of esophageal leiomyoma in Alport's syndrome treated with robotic-assisted distal myotomy: A surgical technique to avoid esophagectomy.International journal of surgery case reports · 2023Article
- Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions inFrontiers in medicine · 2021Article
- Diffuse leiomyomatosis with circumferential thickening of the gastrointestinal wall, resembling human diffuse leiomyomatosis, in a young miniature dachshund.The Journal of veterinary medical science · 2020Article
- Alport-leiomyomatosis syndrome requiring subtotal esophagectomy for refractory gastroesophageal reflux disease after childhood partial esophagogastrectomy: a case report.General thoracic and cardiovascular surgery · 2020Article
- Genotype-phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome.Molecular genetics & genomic medicine · 2019Article
- Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.Journal of human genetics · 2017Article
- Alport syndrome--insights from basic and clinical research.Nature reviews. Nephrology · 2013Review
- Uterine fibroids: pathogenesis and interactions with endometrium and endomyometrial junction.Obstetrics and gynecology international · 2013Review
- Leiomyoma: genetics, assisted reproduction, pregnancy and therapeutic advances.Journal of assisted reproduction and genetics · 2012Review
- The role of angiogenic factors in fibroid pathogenesis: potential implications for future therapy.Human reproduction updateReview
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alport syndrome (ATS) is a nephropathy characterized by the association of progressive hematuric nephritis with ultrastructural changes of the glomerular basement membrane (thinning, thickening, and splitting), sensorineural deafness, and variable ocular abnormalities (anterior lenticonus, macular flecks, and cataracts). The most common mode of transmission is X-linked inheritance, due to COL4A5 mutations. X-linked ATS is rarely associated with diffuse leiomyomatosis (DL), a benign hypertrophy of the visceral smooth muscle in gastrointestinal, respiratory, and female reproductive tracts. The ATS-DL complex is due to deletions that encompass the 5' ends of the COL4A5 and COL4A6 genes and include the bidirectional promoter. In this paper, we described 3 ATS-DL cases, 2 familial and 1 sporadic bearing a deletion encompassing the 5'-end of both the COL4A5 and COL4A6 genes, as identified by multiplex ligation-dependent probe amplification (MLPA) analysis. The array-CGH technique allowed a better definition of deletion size, confirming that the proximal breakpoint was within COL4A6 intron 2 in 2 cases. Surprisingly, 1 case had a deletion extending proximally beyond exon 3 of COL4A6, as confirmed by qPCR analysis. This is the largest deletion reported to date that has been associated with ATS-DL and this case should lead us to reconsider the mechanisms that might be involved in the development of diffuse leiomyomatosis.
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