title: Lipoid proteinosis presenting with an unusual nonsense Q32X mutation in exon 2 of the extracellular matrix protein 1 gene.
abstract: Lipoid proteinosis (LP) is a rare disorder characterized by extensive hyaline-like deposits on the skin, mucous membranes and various internal organs with varying clinical manifestations. The disorder has been recently shown to result from loss-of-function mutations in the extracellular matrix protein 1 gene (ECM1) on 1Q21. The two cases reported here had typical clinical and histological features consistent with LP. Direct sequencing of amplified DNA from the second patient showed a single nucleotide substitution (C > T) at nucleotide 94 within exon 2 of the ECM1 gene, nonsense mutation Q32X. This is the second case reported of LP with involvement of exon 2 of ECM1.
authors.affiliation: Department of Oral Pathology, Faculty of Dental Sciences Sri Ramachandra Medical College, Sri Ramachandra University, Chennai, India. chelvandrthamizh@yahoo.co.in
authors.forename: H Thamizh
authors.initials: HT
authors.lastname: Chelvan
authors.forename: Malathi
authors.initials: M
authors.lastname: Narasimhan
authors.forename: Anandhan
authors.initials: A
authors.lastname: Shankaran Subramanian
authors.forename: Shobhana
authors.initials: S
authors.lastname: Subramaniam
mesh_terms: D000328:Adult; D002648:Child; D018389:Codon, Nonsense; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics* / Q000473:pathology; D008297:Male; D020641:Polymorphism, Single Nucleotide
chemical_list: D018389:Codon, Nonsense; C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins