Cases reported "Anticipation, Genetic"

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1/6. Father-son testicular tumors: evidence for genetic anticipation? A case report and review of the literature.

    BACKGROUND: The etiology of testicular carcinomas is unknown. Father-son testicular tumors represent an important subset of patients because the sons have a 6- to 10-fold increase in the risk of developing a testicular tumor compared with the general population, suggesting a possible genetic component in the etiology of the disease. Genetic anticipation has been established for several diseases and manifests itself clinically with earlier age of onset (AO) of disease or with increased severity of disease in children compared with their parents. methods: We report only the 13th case of pure seminoma occurring in both a father and a son. The most striking feature of our case study was a 27-year difference in the AO between father and son. A review of the literature from 1972 through 1999 provided 47 cases of father-son testicular tumors in which sufficient information was available to compare the AO and the severity of the disease in the fathers (G1) and the sons (G2). RESULTS: The mean AO for G1 was 43.3 ( /- 1.6) years compared with a mean AO for G2 of 27.0 ( /- 1.0) years for all 47 cases (P < 0.01). For fathers presenting with a pure seminoma, the mean AO was 45.9 ( /- 1.8) years for G1 compared with 27.0 ( /- 1.1) years for G2 (P < 0.01). For fathers presenting with a nonseminomatous tumor, the mean AO in G1 was 37.9 ( /- 2.6) years and 26.9 ( /- 1.8) years for G2 (P < 0.01). For the entire group of 47 cases, disease was more severe in G2 compared with G1 in 43% of cases, of equal severity in 47% of cases, and less severe in G2 compared with G1 in 10% of cases. CONCLUSIONS: Genetic anticipation may be responsible for many father-son testicular tumors. ( info)

2/6. Autosomal dominant rolandic epilepsy with speech dyspraxia.

    Autosomal Dominant Rolandic epilepsy with speech Dyspraxia (ADRESD) is a rare disorder which highlights the relationship between Benign Rolandic epilepsy (BRE) and speech and language disorders. Subtle speech and language disorders have recently been well characterised in BRE. ADRESD is associated with long term, more severe speech and language difficulties. The time course of rolandic epilepsy in ADRESD is typical of that of BRE. ADRESD is inherited in an autosomal dominant manner with anticipation. It is postulated that the anticipation may be due to an, as yet unidentified, triplet repeat expansion in a gene for rolandic epilepsy. BRE follows complex inheritance but it is possible that ADRESD may hold some valuable clues to the pathogenesis of BRE. ( info)

3/6. Anticipation in an Indo-Canadian family with Crohn's disease.

    Genetic anticipation, associated elsewhere with monogenic neurological disorders, has been hypothesized to be present in familial forms of Crohn's disease. Usually, with studies of parent-child pairs, the parent who is initially diagnosed is older at the onset of disease than the child. With each successive generation, an apparent increase in disease severity or behaviour occurs. This phenomenon is believed to have a molecular basis. In the present report, an Indo-Canadian family with Crohn's disease is described. In all members of the family, disease was diagnosed only after prolonged residence in canada, supporting the view that Crohn's disease arises in individuals with a genetic predisposition following exposure to some, as yet unknown, common environmental factor. Three siblings with Crohn's disease, first diagnosed between ages 15 and 27 years, or six to 11 years after arrival in canada, had phenotypically concordant disease localized in the ileum and colon, with fistulizing complications, including perianal sepsis. Crohn's disease was only diagnosed in the father at the age of 76 years, almost three decades after his arrival in canada. His disease was localized to the ileum and had a fibrostenosing behaviour. This is the first reported instance of familial Crohn's disease in an immigrant population, illustrating potential biases in genetically based studies of Crohn's disease that rely solely on phenotypic expression. ( info)

4/6. A patient with myotonic dystrophy type 1 (DM 1) accompanied by laryngeal and renal cell carcinomas had a small CTG triplet repeat expansion but no somatic instability in normal tissues.

    We examined (CTG)n lengths in various tissues from a 70-year-old man with myotonic dystrophy type 1 (DM 1) who had a small 60-70 (CTG), expansion in his leukocytes. He died of renal cell carcinoma 5 years after a total laryngectomy for laryngeal carcinoma. Southern blot and polymerase chain reaction analyses were done on tissues obtained at autopsy. In the various normal tissues, (CTG). lengths were almost all the same size, whereas the renal cell carcinoma and metastatic tissues had longer lengths. When compared with the lengths in leukocytes about 5 years previously, (CTG)n lengths in the normal tissues were the same size. These findings suggest that both somatic instability and age-dependent (CTG). expansion in DM 1 patients with a small expansion may be less dominant than in patients with large expansions. ( info)

5/6. SCA2 may present as levodopa-responsive parkinsonism.

    Some kindreds with familial parkinsonism exhibit genetic anticipation, suggesting possible involvement of trinucleotide repeat expansion. Recent reports have shown trinucleotide repeat expansions in the spinocerebellar ataxia 2 (SCA2) gene in patients with levodopa-responsive parkinsonism. We tested 136 unrelated patients with familial parkinsonism for SCA2 mutations. Two probands had borderline mutations; the rest were normal. (or=36 is pathogenic). The expanded allele segregated with neurological signs in one kindred. The absence of borderline mutations in the normal population, and the co-segregation of the expanded allele with neurological signs in one kindred suggest that SCA2 mutations may be responsible for a subset of familial parkinsonism. ( info)

6/6. Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case.

    Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominantly inherited disorder characterized by cerebellar ataxia, dysarthria and nystagmus. The molecular background for the disorder is a CAG repeat expansion in the CACNA1A gene located on chromosome 19. The size of SCA6 expanded alleles is usually stable, and variation in repeat size over successive generations is rare. We report a Danish family with one case of SCA6 resembling a sporadic case of spinocerebellar ataxia. Analysis of the CACNA1A gene showed meiotic CAG repeat instability in the transmission from a 70-year-old woman with no subjective symptoms to her symptomatic son. The CAG repeat size expanded from 22 repeats in the mother to 23 repeats in the proband. This case demonstrates maternal repeat instability and clinical anticipation in a family with SCA6. ( info)

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