A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 (ital) gene

Article Abstract:

A clinical variant of spinal neurofibromatosis (SNF) type 1 has been identified, a familial SNF with a frameshift mutation in the neurofibromatosis type 1 (NFL (ital)) gene. A three-generation family having five SNF members has been studied. Affected members have multiple spinal neurofibromas and cafe au lait spots. One had cutaneous neurofibromas. Some members had other NF1 (ital) signs.

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A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2

Article Abstract:

Autosomal dominant polycystic kidney disease (ADPKD) type 2 and a loss-of-function model for cystogenesis in human are discussed. Thirty renal cysts from a patient with PKD2 (ital) were studied in an effort to show that somatic mutations exist in renal cysts from a PKD2 (ital) kidney, and second-hit mutations were identified in the cysts.

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Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination

Article Abstract:

The sites of recombination and breakpoint regions of three type 2 deletions are analyzed. The SUZ12 gene and its pseudogene constitute for nonallelic homologous recombination (NAHR) in the neurofibromatosis type 1(NF1) gene region leading to type 2 deletions.

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