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)

Important symptoms of tuberous sclerosis complex (TSC), an autosomal dominant disorder, are hamartomata in several organs, mental retardation and epilepsy. Either one of two loci can be involved (TSC1 and TSC2), of which the TSC2 gene has been cloned. To date, only 35 mutations in the TSC2 gene have been described ranging from large deletions to point mutations. Southern blot analysis using cDNA clones of the TSC2 gene was performed on a cohort of 160 unrelated TSC patients and revealed a 10 kb insertion. The insertion was also present in DNA of the affected father. Both patients showed renal angiomyolipoma, hypomelanotic macules and epilepsy. SSCP analysis of exons 1,2,3,9,12,14,30a and 36 identified two mutations in exon 30a: 3671del8 and S1221X. Symptoms of the sporadic patient with the 3671del8 mutation are cortical tubers, subependymal nodules, facial angiofibroma, ungual fibroma, renal angiomyolipoma, hypomelanotic macules, epilepsy and mental retardation. Clinical symptoms of the patient with the S1221X mutation are facial angiofibroma, ungual fibroma, hypomelanotic macules, epilepsy and mental retardation. His parents were negative for the S1221X mutation, although a germline mosaicism can not be excluded. Besides the previously described polymorphism 1596C->T, two rare variants were observed, a substitution of C->T at position 1294 and at position 1299 C->A.
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PMID:Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online. 1021 7

Tuberous sclerosis complex (TSC) is a rare multisystem genetic disease, with an estimated incidence of 1 in 6000-1 in 10,000. TSC is an autosomal dominant syndrome involving heart, kidneys, lungs, and skin. The classic triad of TSC is seizures, mental retardation, and angiofibromas; this triad occurs in only 29% of patients. The clinical diagnostic guidelines on TSC are prepared based on clinical features, radiographic findings. The most common oral manifestations of TSC are fibroma, gingival hyperplasia, and enamel hypoplasia. Odontogenic myxofibroma represents a rare slow-growing benign neoplasm found rarely in children below 10 years or adults over 50 years of age. The prevalence of myxoma is between 0.04% and 3.7%. Here, we are reporting a rare case of myxofibroma of gingiva in an 8-year-old female TSC patient.
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PMID:Odontogenic myxofibroma of gingiva in a pediatric patient with tuberous sclerosis: A rare case report. 2799 29

Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by systemic hamartoma and diverse systemic features. TSC1 and TSC2 are the causative genes, and mental retardation, epileptic seizures, and facial angiofibroma develop in many patients with the disease. The case of a patient with TSC who developed a central odontogenic fibroma of the mandible is reported here. The patient was a 21-year-old woman who was referred with a swelling of the labial gingiva in the region of the right lower lateral incisor and canine. Dental radiography revealed a multilocular radiolucent region with a clear boundary. The right lower lateral incisor and canine were continuous with the lesion and thus were excised en bloc. The lesion was encapsulated and easily dissected. The diagnosis on immunohistological staining was odontogenic fibroma without an epithelial component. TSC1/2 gene mutation causes abnormal activation of mammalian target of rapamycin (mTOR) downstream of the PI3K-AKT pathway. The odontogenic fibroma in this patient was positive for mTOR, suggesting that the development of the odontogenic fibroma was the result of abnormal activation of mTOR, as in angiofibroma. The clinical course of this patient is presented and the developmental mechanism of central odontogenic fibroma is discussed.
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PMID:Clinicopathological investigation of odontogenic fibroma in tuberous sclerosis complex. 2965 68

Case Report. A nine-year-old patient with a diagnosis of tuberous sclerosis (with no pathological record) that showed calcifications at the brain level. Besides, the case showed the Vogt triad (epilepsy, mental retardation, and sebaceous adenoma). The patient clinically showed a volume increase of hard consistency, without suppuration and no sessile that included the following teeth 73, 74, and 75. Cone beam computed tomography (CBCT) was obtained, and it displayed a delimited unilocular lesion. After surgical excision, the histopathological report was desmoplastic fibroma (DF). It was observed that the patient had an aggressive recurrence of DF at four months after surgery treatment. Due to these clinical findings, resective osseous surgery and curettage were carried out. It is uncommon to find these two pathologies together (DF and tuberous sclerosis). Since DF is a benign pathology but very invasive and destructive, it is necessary a constant follow-up examination due to a high recurrence frequency.
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PMID:Desmoplastic Fibroma Recurrence Associated with Tuberous Sclerosis in a Young Patient. 2985 Feb 73