We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Two Novel Gross Deletions of TSC2 in Malaysian Patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome.
- Authors
Ismail, Nur Farrah Dila; Nik Abdul Malik, Nik Mohd Ariff; Mohseni, Jafar; Rani, Abdulqawee Mahyoob; Hayati, Fatemeh; Salmi, Abdul Razak; Narazah, Mohd Yusof; Zabidi-Hussin, Z.A.M.H.; Silawati, Abdul Rashid; Keng, Wee Teik; Ngu, Lock Hock; Sasongko, Teguh Haryo
- Abstract
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, TSC1 or TSC2, encoding for hamartin and tuberin, respectively. TSC2/PKD1 contiguous gene deletion syndrome is a very rare condition due to deletion involving both TSC2 and PKD1 genes. Tuberous sclerosis complex cannot be easily diagnosed since there is no pathognomonic feature, although there are consensus diagnostic criteria for that. Mutation analysis is useful and plays important roles. We report here two novel gross deletions of TSC2 gene in Malay patients with tuberous sclerosis complex and TSC2/PKD1 contiguous gene deletion syndrome, respectively.
- Publication
Japanese Journal of Clinical Oncology, 2014, Vol 44, Issue 5, p506
- ISSN
0368-2811
- Publication type
Article
- DOI
10.1093/jjco/hyu024