Legius syndrome, caused by SPRED1 mutations, has phenotypic overlap with neurofibromatosis type 1 (NF1) without tumorigenic manifestations. Patients fulfilling the National Institutes of Health (NIH) diagnostic criteria for NF1 were enrolled at the University of Utah NF Clinic, and SPRED1 mutation analysis was performed to identify the frequency of Legius syndrome within an NF1 clinic population. SPRED1 sequencing was performed on 151 individuals with the clinical diagnosis of NF1, and 2 individuals (1.3%) were found to have novel SPRED1 mutations, p.R18X and p.Q194X. The phenotypes for the 2 individuals with SPRED1 mutations included altered pigmentation without tumorigenesis. A specific SPRED1 haplotype allele was identified in 27 individuals. The frequency of SPRED1 mutations in patients meeting diagnostic criteria for NF1 in a hospital-based clinic is 1% to 2%. The likelihood an individual is harboring a SPRED1 mutation increases with age if multiple, nonpigmentary NF1 findings are absent. Legius syndrome patients may benefit from altered medical surveillance.
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Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Spurlock, G.
Bennett, E.
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Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Bennett, E.
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Chuzhanova, N.
Thomas, N.
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Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Thomas, N.
Jim, H-Ping
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Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Jim, H-Ping
Side, L.
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Oxford Radcliffe Hosp, Dept Clin Genet, Oxford, EnglandCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Side, L.
Davies, S.
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Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Davies, S.
Haan, E.
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Univ Adelaide, S Australian Clin Genet Serv, SA Pathol, Hosp N Adelaide, Adelaide, SA, Australia
Univ Adelaide, Dept Paediat, Adelaide, SA, AustraliaCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Haan, E.
Kerr, B.
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St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, EnglandCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Kerr, B.
Huson, S. M.
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St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, EnglandCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Huson, S. M.
Upadhyaya, M.
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Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
机构:
Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Spurlock, G.
Bennett, E.
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Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Bennett, E.
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Chuzhanova, N.
Thomas, N.
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Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Thomas, N.
Jim, H-Ping
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Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Jim, H-Ping
Side, L.
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h-index: 0
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Oxford Radcliffe Hosp, Dept Clin Genet, Oxford, EnglandCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Side, L.
Davies, S.
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Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Davies, S.
Haan, E.
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h-index: 0
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Univ Adelaide, S Australian Clin Genet Serv, SA Pathol, Hosp N Adelaide, Adelaide, SA, Australia
Univ Adelaide, Dept Paediat, Adelaide, SA, AustraliaCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Haan, E.
Kerr, B.
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h-index: 0
机构:
St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, EnglandCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Kerr, B.
Huson, S. M.
论文数: 0引用数: 0
h-index: 0
机构:
St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, EnglandCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Huson, S. M.
Upadhyaya, M.
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h-index: 0
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Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesCardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales