Rosbotham, JL; Malik, NM; Syrris, P; Jeffery, S; Bedlow, A; Gharraie, S; ... Carter, ND; + view all Rosbotham, JL; Malik, NM; Syrris, P; Jeffery, S; Bedlow, A; Gharraie, S; Murday, VA; Holden, CA; Carter, ND; - view fewer (1999) Lack of c-kit mutation in familial urticaria pigmentosa. BRIT J DERMATOL , 140 (5) 849 - 852.
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Somatic mutations within c-kit have been reported in individuals with mastocytoses, including urticaria pigmentosa (UP), We have identified three siblings with UP, We aimed to determine whether the c-kit proto-oncogene was playing a part in the aetiology of UP in these three siblings. Using seven microsatellite repeat markers spanning an 8-cM internal encompassing the c-kit gene we followed the transmission of the c-kit gene in this family, Furthermore, single-strand conformation polymorphism analysis was used to scan exon 17 of the c-kit gene for mutations in genomic DNA of all family members and somatic DNA extracted from skin of the eldest affected sibling, the proband, No mutations were found in exon 17 in either genomic DNA of all family members or somatic DNA of the proband, Patients with UP have been shown to possess somatic mutations of the c-kit gene. However, this locus has been excluded as playing a part in the three siblings examined here in whom a second gene locus must be determining their UP, Therefore, this study emphasizes genetic heterogeneity in UP, Future study to identify primary molecular determinants of UP should include affected sib-pair studies.
|Title:||Lack of c-kit mutation in familial urticaria pigmentosa|
|Keywords:||c-kit mutation, familial urticaria pigmentosa, genetic heterogeneity, CELL GROWTH-FACTOR, HUMAN PIEBALDISM, MASTOCYTOSIS, PROTOONCOGENE, RECEPTOR, TWINS, GENE|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science|
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