Редактирование: SPRED1 (раздел)

==Publications==

{{medline-entry
|title=SPRED 1 mutations in a neurofibromatosis clinic.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/20179001
|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.
|mesh-terms=* Adaptor Proteins, Signal Transducing
* Adolescent
* Adult
* Aging
* Cafe-au-Lait Spots
* Child
* Child, Preschool
* Cohort Studies
* Comorbidity
* Female
* Genetic Predisposition to Disease
* Humans
* Infant
* Intracellular Signaling Peptides and Proteins
* Male
* Membrane Proteins
* Mutation
* Neurofibromatosis 1
* Young Adult

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3243064
}}