Tuberous Sclerosis Complex

Haryo, Teguh; Malik, Nik Mohd Ariff Nik Abdul; Ismail, Nur Farrah Dila; Abd., Salmi

doi:10.5772/17570

Cited by 1 publication

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References 29 publications

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“…Second, mutation analysis of the patient's family members may also provide reassurance that other members of the family do not carry the mutation, except in the rare case of mosaicism among unaffected family members (7). Third, mutation analysis enables prenatal genetic diagnosis in families with either a child or a parent with a known mutation (8). We report here two novel gross deletions of TSC2 gene in Malay patients with TSC and PKDTS, respectively.…”

Section: Introductionmentioning

confidence: 93%

Two Novel Gross Deletions of TSC2 in Malaysian Patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome

Ismail

Malik

Mohseni

et al. 2014

Japanese Journal of Clinical Oncology

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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.

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Section: Introductionmentioning

confidence: 93%