title: A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.
abstract: Effect of aging on decreased skin elasticity and bone mass is well known. Geroderma osteodysplastica (GO) is a very rare autosomal recessive disorder that recapitulates these two phenotypes at a much younger age. Using homozygosity mapping and linkage analysis in four Saudi families we have identified two mutations in SCYL1BP1, consistent with the very recent report by Hennies et al. [Hennies et al. (2008); Nat Genet 40: 1410-1412]. Interestingly, the missense mutation identified in our study is associated with an identical phenotype to that seen with the other null mutations including the other mutation in this study. Our study, therefore, supplements the limited available data on SCYL1BP1 and further establishes deficiency of this recently described golgin as the only known cause of GO.
authors.affiliation: Department of Pharmacognosy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al-Dosari
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000293:Adolescent; D000328:Adult; D019588:Aging, Premature / Q000150:complications / Q000235:genetics; D001847:Bone Diseases / Q000150:complications / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000502:physiology; D003241:Consanguinity; D005260:Female; D000077614:Golgi Matrix Proteins; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000502:physiology; D010375:Pedigree; D010641:Phenotype; D012871:Skin Diseases / Q000150:complications / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D018389:Codon, Nonsense; C533680:GORAB protein, human; D000077614:Golgi Matrix Proteins