Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 May 20;15(4):657-659.
doi: 10.4103/idoj.idoj_469_23. eCollection 2024 Jul-Aug.

Novel Stop-Gain TSC2 Gene Mutation in an Indian Child of Tuberous Sclerosis Complex

Ruhi Haqqani  1 , Sidra Rana  1 , Nayeem Sadath Haneef  1 , Omar Farooq  1 , Vadlamudi Raghavendra Rao  2
Affiliations

Novel Stop-Gain TSC2 Gene Mutation in an Indian Child of Tuberous Sclerosis Complex

Ruhi Haqqani et al. Indian Dermatol Online J. .
No abstract available

PubMed Disclaimer

Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Solitary skin-colored plaque on the forehead with multiple grouped angiofibromas over the cheeks, nose, and chin
Figure 2
Figure 2
Multiple skin-colored plaques on the back with a few hypomelanotic macules
Figure 3
Figure 3
CT brain scan showing multiple subependymal nodules
See this image and copyright information in PMC

References

    1. Curatolo O, editor. Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes. London, England: MacKeith Press; 2003.
    1. Triono A, Herini ES, Iskandar K, Hadiyanto ML, Diantika K, Wijayanti VW. De novo mutation of the TSC2 gene in patient with tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) phenotype: A case report. Ann Med Surg. 2023;85:2102–7. - PMC - PubMed
    1. Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet. 2001;68:64–80. - PMC - PubMed
    1. Sudarshan S, Kumar A, Gupta A, Bhari N, Sethuraman G, Kaushal T, et al. Mutation spectrum of tuberous sclerosis complex patients in Indian population. J Pediatr Genet. 2020;10:274–83. - PMC - PubMed
    1. Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, et al. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: Genotype–phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex. Eur J Hum Genet. 2005;13:731–41. - PubMed

LinkOut - more resources