A novel TSC2 mutation causing tuberless tuberous sclerosis
نویسندگان
چکیده
منابع مشابه
A novel TSC2 mutation causing tuberless tuberous sclerosis
http://dx.doi.org/10.1016/j.seizure.2014.04.001 1059-1311/ 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights re hamartomas most commonly in the brain, skin, kidney and eye, that cause disabling neuro-pschyatric manifestations. It’s clinical manifestations and penetrance are highly variable and the classical triad of presentation occurs in just 29% of patients. Locus heter...
متن کامل[Novel mutation in TSC2 gene in pediatric patient with clinical diagnosis of tuberous sclerosis].
Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal dominant disorder that results from mutations within either the TSC1 gene or the TSC2 gene. Diagnosis is based on well-established clinical criteria or genetic criteria. Clinical features are highly variable and could be developing over the life. We present a case of TSC with a molecular test that identified a novel variant in TSC2 ...
متن کاملA Chinese tuberous sclerosis complex family and a novel tuberous sclerosis complex-2 mutation.
Tuberous sclerosis complex (TSC) is a relatively common autosomal dominant genetic disorder affecting 1/14,000–1/6000 Western populations. The incidence of TSC in Chinese population is still unknown although case reports of Chinese TSC patients were documented. The main clinical features of TSC include seizures, mental retardation, and the development of hamartomas in multiple organs such as th...
متن کاملCharacterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis.
T uberous sclerosis (TSC) is an autosomal dominant disorder caused by mutations in either the TSC1 or TSC2 gene. Both genes are tumour suppressor genes and encode the proteins hamartin and tuberin, respectively. Recent work has established that tuberin and hamartin interact to form a complex, and that this tuberin-hamartin complex antagonises signal transduction by preventing the activation of ...
متن کاملMutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in the TSC1 or TSC2 genes and is frequently associated with hamartoma formation in multiple organ systems. Here, we report two novel mutations in the TSC2 gene, including a splicing mutation (IVS 29 +1G>C) in intron 29 and a deletion/insertion mutation (C.5090-5092delCCA- inAG) in exon 39 in two ...
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ژورنال
عنوان ژورنال: Seizure
سال: 2014
ISSN: 1059-1311
DOI: 10.1016/j.seizure.2014.04.001