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Lipoid proteinosis presenting with an unusual nonsense Q32X mutation in exon 2 of the extracellular matrix protein 1 gene
Author(s) -
Chelvan H Thamizh,
Narasimhan Malathi,
Shankaran Subramanian Anandhan,
Subramaniam Shobhana
Publication year - 2012
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/j.1440-0960.2011.00803.x
Subject(s) - exon , nonsense mutation , genodermatosis , gene , mutation , medicine , microbiology and biotechnology , genetics , extracellular matrix , missense mutation , biology
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.