Neurofibromatosis NF-1 LPU017 - Detail

Neurofibromatosis type 1 (NF1) occurs in 1 in 3,000-4,000 people. It is a common autosomal dominant disorder characterised by neurofibromas, café-au-lait spots, freckles, Lisch nodules, bone deformities, learning disabilities, macrocephaly, short stature and predisposition to developing tumors such as myeloid malignancies, gliomas and pheochromocytomas^1,2.3. In most cases the second copy of the NF1 gene becomes altered during a patient's lifetime. This event is most likely necessary to trigger tumour formation⁶. NF1 is caused by mutations of the tumour suppressor gene NF1, which spans approximately 280 kb and is located at the 17q11.2^4,5. Mutations encompass both single nucleotide substitutions and large genomic deletions. Patients with deletions of the entire gene typically have a more severe presentation than those with intragenic mutations. Approximately 5-20% of patients with NF1 carry a heterozygous deletion and thus lack the NF1 gene and ≥ 11 contiguous genes. Most interstitial fusions appear to directly link two regions of high sequence similarity that occur at distances of ~400 kb and 700 kb distal to the NF1 gene⁷.

Reference:/Bibliographie/Literatur/Bibliografia

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