Abstract
Birt-Hogg-Dubé syndrome is a hereditary syndrome characterized by benign disease of skin and lungs and a risk of malignant renal tumors. We describe a clinical and genetic study of a large Dutch family with a novel mutation in the FLCN gene. Renal cancer at very young age occurred in one branch of this family, while in other branches, cutaneous and pulmonary symptoms predominated. A variety of congenital anomalies and connective tissue abnormalities were observed, possibly associated with the gene mutation.
MeSH terms
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Adult
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Age of Onset
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Aged
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Base Sequence
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Carcinoma, Papillary / diagnosis
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Carcinoma, Papillary / epidemiology
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Carcinoma, Papillary / genetics
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DNA / analysis
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Family*
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Female
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Humans
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Kidney Neoplasms / diagnosis*
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Kidney Neoplasms / epidemiology
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Kidney Neoplasms / genetics*
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Lung Diseases / diagnosis
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Lung Diseases / genetics
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Male
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Middle Aged
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Molecular Sequence Data
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Pedigree
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Pneumothorax / diagnosis
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Pneumothorax / genetics
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Proto-Oncogene Proteins / genetics
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Sequence Deletion
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Skin Abnormalities / diagnosis
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Skin Abnormalities / genetics
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Syndrome
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Tumor Suppressor Proteins / genetics
Substances
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FLCN protein, human
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Proto-Oncogene Proteins
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Tumor Suppressor Proteins
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DNA