Researchers at Washington University, Department of Internal Medicine release new data on acanthosis nigricans genetics
2007 OCT 9 -- New investigation results, 'Familial acanthosis nigricans due to K650T FGFR3 mutation,' are detailed in a study published in Archives of Dermatology. "Acanthosis nigricans is a feature of several syndromes caused by activating mutations of the fibroblast growth factor receptor 3 gene (FGFR3), including Crouzon syndrome with acanthosis nigricans, thanatophoric dysplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN syndrome). OBSERVATIONS: We describe a healthy 4-year-old African American girl with generalized acanthosis nigricans since infancy," investigators in the United States report. "Her father had a history of acanthosis nigricans since childhood, in addition to Crohn disease, obesity, and adult-onset diabetes mellitus. A pedigree with numerous affected family members was constructed. Other than slightly short stature, no associated anomalies were found, including dysmorphic features or skeletal or neurologic defects," wrote D.R. Berk and colleagues, Washington University, Department of Internal Medicine. The researchers concluded: "Genetic testing revealed a previously undescribed, heterozygous lysine to threonine mutation at codon 650 of the FGFR3 gene in the 4 affected family members who were tested. Extensive acanthosis nigricans in early childhood, especially with a family history of acanthosis nigricans, may warrant testing for FGFR3 mutations.'." Berk and colleagues published their study in Archives of Dermatology (Familial acanthosis nigricans due to K650T FGFR3 mutation. Archives of Dermatology, 2007;143(9):1153-6). For additional information, contact D.R. Berk, Washington University School of Medicine, Dept. of Internal Medicine, 660 S Euclid, Campus Box 8123, St. Louis, MO 63110 USA.. The publisher of the journal Archives of Dermatology can be contacted at: American Medical Association, 515 N State St., Chicago, IL 60610, USA. Keywords: United States, St. Louis, Acanthosis Nigricans Genetics, Acanthosis Nigricans, Dermatology, Syndrome. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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