An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation

Article Abstract:

Renal cell carcinomas (RCCs) make up 85% of all primary renal neoplasms. An unusual route for multistep tumorigenesis has been found to be implied in a novel case of hereditary renal cell cancer. In a family in which a constitutional t(2;3)(q35;q21) was seen, loss of translocation-derivative chromosome 3 was found in five independent renal cell tumors of the clear-cell type. The familial translocation may act in this case as a primary oncogenic event that leads to nondisjunctional loss of the der(3) chromosome with the VHL tumor-suppressor gene. Risk of developing renal cell cancer may be directly proportional to extent of somatic kidney mosaicism from the loss.

Carcinogenesis, Kidney cancer

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X-chromosome inactivation in carriers of Barth syndrome

Article Abstract:

X-chromosome inactivation in carriers of Barth syndrome (BTHS), a rare X-linked recessive disorder involving myopathy of cardiac and skeletal muscles, small stature and neutropenia, is discussed. In 16 obligate carriers of BTHS from six families, PCR was used to analyze, and the skewed X inactivation in 11 of the 16 carriers likely comes from selection against cells with the mutated gene on the active X chromosome, but other factors probably influence expression of the phenotype, as BTHS shows much clinical variation in a family.

Italy, United States, Sweden, Muscle diseases, Muscular diseases, Skeleton, Neutropenia

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A second gene for autosomal dominant Mobius syndrome is localized to chromosome 10q, in a Dutch family

Article Abstract:

A second gene has been found for autosomal dominant Mobius syndrome in a Dutch family other than the one previously studied, and genetic heterogeneity has been established. Familial recurrence may be seen, but cases are most often sporadic. The gene has been localized to chromosome 10q using linkage analysis in a large Dutch family with autosomal dominant inherited facial paresis. Different pedigrees have suggested different modes of inheritance.

Face, Facies (Medicine), Extremities (Anatomy), Familial diseases, Nerves, Cranial, Cranial nerves, Paralysis, Facial, Facial paralysis

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