4.1 Article

TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant

期刊

NEFROLOGIA
卷 40, 期 1, 页码 91-98

出版社

SOC ESPANOLA NEFROLOGIA DR RAFAEL MATESANZ
DOI: 10.1016/j.nefro.2019.03.003

关键词

Tuberous sclerosis complex; Polycystic kidney disease; Copy number variant; TSC2/PKD1 contiguous gene syndrome; SSTR5 gene

资金

  1. National Institute of Pediatrics, Ciudad de Mexico, Mexico (Recursos Fiscales del Programa E022)
  2. Consejo Nacional de Ciencia y Tecnologia, Mexico (CONACyT FONSEC SSA/IMSS/ISSSTE, 2016-2018) [S0008, 261404]
  3. Fundacion Miguel Aleman 2012
  4. Novartis

向作者/读者索取更多资源

About 80% of patients with tuberous sclerosis complex (TSC) present renal involvement, usually as angiomyolipomas followed by cystic disease. An early diagnosis of polycystic kidney disease (PKD) in such patients is frequently related to the TSC2/PKD1 contiguous gene syndrome (PKDTS). Molecular confirmation of PKDTS is important for a prompt diagnosis, which can be complicated by the phenotypic heterogeneity of PKD and the absence of a clear phenotypegenotype correlation. Herein, we report three PKDTS pediatric patients. The case 3 did not present a classic PKDTS phenotype, having only one observable cyst on renal ultrasound at age 4 and multiple small cysts on magnetic resonance imaging at age 15. In this patient, chromosomal microarray analysis showed a gross deletion of 230.8 kb that involved TSC2, PKD1 and 13 other protein-coding genes, plus a heterozygous duplication of a previously undescribed copy number variant of 242.9 kb that involved six protein-coding genes, including SSTR5, in the 16p13.3 region. Given the observations that the case 3 presented the mildest renal phenotype, harbored three copies of SSTR5, and the reported inhibition of cystogenesis (specially in liver) observed with somatostatin analogs in some patients with autosomal dominant PKD, it can be hypothesized that other genetic factors as the gene dosage of SSTR5 may influence the PKD phenotype and the progression of the disease; however, future work is needed to examine this possibility. (C) 2019 Sociedad Espanola de Nefrologia. Published by Elsevier Espana, S.L.U.

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