Home LiteratureArticle Details
PMID: 26259427 Published · ppublish English

A Case Report of Tuberous Sclerosis in Two Generations.

The Journal of the Association of Physicians of India ·Vol. 62 ·No. 12 ·2015-09-08

Chandrakala, Patil Sharanagouda, Guruprasad K Y

Abstract

Tuberous sclerosis complex [TSC] is a genetic multisystem disorder characterised by the growth of numerous hamartomas in several organs including the brain, heart, skin, eyes, kidney, lung and liver. The affected genes are TSC1 and TSC2 encoding hamartin and tuberin respectively. TSC has a wide range of severity and some people with this condition will only be mildly affected. At present it is impossible to accurately predict who will remain only mildly affected and who will be more severely affected by TSC. Even members of the same family can be affected differently. Many family members show signs of being carriers of the genes for the disease when carefully examined. This article reports a family with documented Tuberous sclerosis in two generations involving three members which is a rare entity.

Article Info
Journal
The Journal of the Association of Physicians of India
Abbr.
J Assoc Physicians India
ISSN
0004-5772
Published
2015-09-08
Indexed
2015-08-11
Updated
2015-08-11
Language
English
Country/Region
India
NLM ID
7505585
External Links
PubMed source
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]