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Review
. 2022 Jul 23;17(1):288.
doi: 10.1186/s13023-022-02443-1.

Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China

Cong Luo #  1   2 , Ye Zhang #  2   3 , Yu-Shi Zhang  4 , Ming-Xin Zhang  5 , Jun Ning  1   2 , Min-Feng Chen  1   2 , Yuan Li  1   2 , Lin Qi  1   2 , Xiong-Bing Zu  1   2 , Yang-Le Li  6   7 , Yi Cai  8   9
Affiliations
Review

Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China

Cong Luo et al. Orphanet J Rare Dis. .

Abstract

Purpose: To explore the relationship between the genotype and renal phenotype in a Chinese cohort and guide clinical decision-making for treating tuberous sclerosis complex (TSC).

Materials and methods: We reviewed 173 patients with definite TSC at three centers in China from September 2014 to September 2020. All the patients underwent TSC1 and TSC2 genetic testing as well as renal phenotypic evaluation. All analyses were performed using the SPSS software, version 19.0, with a cut-off P value of 0.05 considered statistically significant.

Results: We identified variants in 93% (161/173) cases, including 16% TSC1 and 77% TSC2 variants. Analysis of the relationship between the genotype and renal phenotype, revealed that those with TSC2 variants were more likely to develop severe renal AML (> 4) (P = 0.044). In terms of treatment, TSC2 variants were more likely to undergo nephrectomy/partial nephrectomy (P = 0.036) and receive mTOR medication such as everolimus (P < 0.001). However, there was no significant difference between the two groups in terms of their response to the everolimus treatment.

Conclusion: Patients with TSC2 variants exhibit more severe renal phenotypes, especially those associated with renal angiomyolipomas (AML), and they often require nephrectomy/partial nephrectomy or mTOR medication. Detection of the genotype is helpful in TSC management.

Keywords: Genotype; Renal phenotype; TSC1; TSC2; Tuberous sclerosis complex.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
TSC1 and TSC2 gene mutation spectrum in Chinese patients. A The proportion of TSC1, TSC2 gene and NMI in the cohort; B the mutation types of TSC1; C the mutation types of TSC2; D the distribution of various mutation types in TSC1; E the distribution of various mutation types in TSC2
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References

    1. Osborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci. 1991;615:125–127. doi: 10.1111/j.1749-6632.1991.tb37754.x. - DOI - PubMed
    1. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345–1356. doi: 10.1056/NEJMra055323. - DOI - PubMed
    1. Xu L, Sterner C, Maheshwar MM, Wilson PJ, Nellist M, Short PM, et al. Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues. Genomics. 1995;27(3):475–480. doi: 10.1006/geno.1995.1079. - DOI - PubMed
    1. European Chromosome 16 Tuberous Sclerosis Consortium Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell. 1993;75(7):1305–1315. doi: 10.1016/0092-8674(93)90618-Z. - DOI - PubMed
    1. Zhang Y, Gao X, Saucedo LJ, Ru B, Edgar BA, Pan D. Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins. Nat Cell Biol. 2003;5(6):578–581. doi: 10.1038/ncb999. - DOI - PubMed

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