SPRED 1 Mutations in a Neurofibromatosis Clinic
Year: 2010
Type: article
Study design: Observational Study
Abstract: 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.
Source: Journal of Child Neurology
Institutions: University of Utah, ARUP Laboratories (United States)
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
Funders: Doris Duke Charitable Foundation, Children's Tumor Foundation, University of Utah, ARUP Laboratories, National Institutes of Health, Center for Clinical and Translational Sciences, University of Texas Health Science Center at Houston, National Institute of Neurological Disorders and Stroke, National Center for Research Resources
OpenAlex ID: W2067050835