Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We performed a comprehensive analysis for mutations in the TSC1 gene using Southern blot analysis, and SSCP and heteroduplex analysis of amplified exons in 13 families with genetic linkage to the TSC1 region, 22 small families without linkage information, and 126 sporadic patients. 17 unique mutations were identified in 21 patients. Mutations were found in 7/13 (54%) TSC1-linked families, 1/22 (5%) small families without linkage, and 13 of 126 (10%) sporadic cases. The mutations were all chain-terminating, with 14 small deletions, 1 small insertion, and 6 nonsense mutations. In families with mutations, all individuals carrying a mutation met formal diagnostic criteria for TSC, apart from a 3-year-old girl who had inherited a deletion mutation, and who had no seizures, normal intelligence, normal abdominal ultrasound, and hypomelanotic macules only on physical exam. We assessed the incidence and severity of mental retardation in the 13 sporadic patients with TSC1 mutations versus the entire sporadic cohort, and found no significant difference. The observations indicate that TSC1 mutations are all inactivating, suggest that TSC1 disease occurs in only 15-20% of the sporadic TSC population, and demonstrate that presymptomatic TSC does occur.
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PMID:Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. 992 5

Tuberous sclerosis complex is an inherited tumour suppressor syndrome, caused by a mutation in either the TSC1 or TSC2 gene. The disease is characterised by a broad phenotypic spectrum that can include seizures, mental retardation, renal dysfunction, and dermatological abnormalities. The TSC1 gene was recently identified and has 23 exons, spanning 45 kb of genomic DNA, and encoding an 8.6 kb mRNA. After screening all 21 coding exons in our collection of 225 unrelated patients, only 29 small mutations were detected, suggesting that TSC1 mutations are under-represented among TSC patients. Almost all TSC1 mutations were small changes leading to a truncated protein, except for a splice site mutation and two in frame deletions in exon 7 and exon 15. No clear difference was observed in the clinical phenotype of patients with an in frame deletion or a frameshift or nonsense mutation. We found the disease causing mutation in 13% of our unrelated set of TSC patients, with more than half of the mutations clustered in exons 15 and 17, and no obvious under-representation of mutations among sporadic cases. In conclusion, we find no support for a genotype-phenotype correlation for the group of TSC1 patients compared to the overall population of TSC patients.
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PMID:Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. 1080 2

Tuberous sclerosis (Bourneville-Pringle-disease, TSC) is an autosomal dominant disorder characterized by seizures, mental retardation and hamartomatous tumours in multiple organs, including subependymal giant cell astrocytomas, cardiac rhabdomyomas and renal angiomyolipomas. Recent population-based studies suggest a prevalence of 1 case per 25,000 individuals. Renal angiomyolipomas, which may be found sporadically or associated with TSC, become evident as an acute retroperitoneal haemorrhage or by symptoms of a flank mass. Ultrasound and computed tomography provide clear evidence of lipomatous formation while, in rare instances, angiography can demonstrate the existence of multiple vascular tumour compartments. In view of two cases which were admitted with the clinical picture of an acute abdomen on the basis of retroperitoneal haemorrhage, the therapeutic strategies for TSC patients with renal angiomyolipomas are discussed, paying regard to the literature in this field.
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PMID:[Angiomyolipoma of the kidneys as a rare cause of retroperitoneal hemorrhage. Two case reports with tuberous sclerosis Bourneville-Pringle]. 1275 Aug 5

Multicenter, retrospective analysis of 70 subjects with TSC following surgery for relief of epilepsy revealed significant associations between younger age at seizure onset, present/prior history of infantile spasms, interictal focality (bilateral versus unilateral), and absence of residual postoperative predominant tuber, and poorer postoperative outcome (p < 0.01). Ictal multifocality, mental retardation, and discordant EEG and MRI data showed a negative trend toward outcome, but were not significant.
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PMID:Surgical outcome in tuberous sclerosis complex: a multicenter survey. 1748 58

We report a 43-year-old TSC man with repeated hemorrhage of bilateral renal AML. He was diagnosed with TSC based on the findings of facial angiofibroma, mental retardation and epilepsy in childhood. In 2011, he experienced three times in AML-associated hemorrhage from the left kidney and received selective transarterial embolotherapy (TAE). In 2013, he also experienced AML-associated hemorrhage from the right kidney and received selective TAE. To control his AML, treatments with Everolimus was started and well tolerated. So far, his renal AML remarkably shrunk without retroperitoneal hemorrhage for 24 months, while he had some episode of side effect.
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PMID:HUGE RENAL ANGIOMYOLIPOMA (AML) IN TUBEROUS SCLEROSIS COMPLEX (TSC) WHICH IS CONTROLED BY EVEROLIMUS: A CASE REPORT. 2813 93

Tuberous sclerosis complex has several renal manifestations like angiomyolipomas. We report a case of a giant AML and discuss its diagnosis and treatment. A 42-year-old woman was admitted to emergency department due to flank pain and hematuria. The patient had history of mental retardation and epilepsy. Abdominal CT without contrast medium revealed a large mass with a fat/blood content inside. On those findings, we diagnosed the patient a bleeding giant AML. We performed selective embolization of the bleeding source with subsequent conservative management. TSC-associated AMLs occur more frequently as multiple lesions and grow to larger size than idiopathic AML.
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PMID:Conservative treatment of monolateral giant renal angiomyolipoma in a patient with Tuberous Sclerosis Complex (TSC): A case report. 3310 10