title: Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese.
abstract: We report two familial cases of NF1 presenting as C to T transitions changing an Arg-1947 codon to a stop codon. In one of the two families, cosegregation of the mutation with NF1 was demonstrated, indicating this mutation causes the disease in this family. As the same mutation at Arg-1947 has been reported previously in three cases of unrelated Caucasians (two are sporadic; the origin of the other is not reported), the codon at Arg-1947 (CGA) in the NF1 gene is considered to be a hotspot common among different ethnic groups and also among familial and sporadic cases.
authors.affiliation: First Department of Internal Medicine, Ehime University, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Horiuchi
authors.forename: N
authors.initials: N
authors.lastname: Hatta
authors.forename: M
authors.initials: M
authors.lastname: Matsumoto
authors.forename: H
authors.initials: H
authors.lastname: Ohtsuka
authors.forename: F S
authors.initials: FS
authors.lastname: Collins
authors.forename: Y
authors.initials: Y
authors.lastname: Kobayashi
authors.forename: S
authors.initials: S
authors.lastname: Fujita
mesh_terms: D000328:Adult; D001120:Arginine; D001483:Base Sequence; D002472:Cell Transformation, Viral; D002478:Cells, Cultured; D003062:Codon; D003596:Cytosine; D017931:DNA Primers; D005190:Family; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012333:RNA, Messenger / Q000235:genetics; D013936:Thymidine
chemical_list: D003062:Codon; D017931:DNA Primers; D012333:RNA, Messenger; D003596:Cytosine; D001120:Arginine; D013936:Thymidine