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The aim of the study was to investigate the molecular genetic defect underlying lipoid proteinosis in a consanguineous Pakistani family.<\/jats:p><jats:p><jats:bold>Methods<\/jats:bold><\/jats:p><jats:p>Genotyping of seven members of the family was performed by amplifying microsatellite markers, tightly linked to the<jats:italic>ECM1<\/jats:italic>gene. To screen for mutations in the<jats:italic>ECM1<\/jats:italic>gene, all of its exons and splice junctions were PCR amplified from genomic DNA and analyzed by SSCP and sequenced directly in an ABI 3130 genetic analyzer.<\/jats:p><jats:p><jats:bold>Results<\/jats:bold><\/jats:p><jats:p>The results revealed linkage of the LP family to the<jats:italic>ECM1<\/jats:italic>locus. Sequence analysis of the coding exons and splice junctions of the<jats:italic>ECM1<\/jats:italic>gene revealed a novel homozygous mutation (c.616C &gt; T) in exon 6, predicted to replace glutamine with stop codon (p.Q206X) at amino acid position 206.<\/jats:p><jats:p><jats:bold>Conclusions<\/jats:bold><\/jats:p><jats:p>The finding of a novel mutation in Pakistani family extends the body of evidence that supports the importance of<jats:italic>ECM1<\/jats:italic>gene for the development of lipoid proteinosis.<\/jats:p>","DOI":"10.1186\/1746-1596-6-69","type":"journal-article","created":{"date-parts":[[2011,7,26]],"date-time":"2011-07-26T18:23:59Z","timestamp":1311704639000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family"],"prefix":"10.1186","volume":"6","author":[{"given":"Muhammad","family":"Nasir","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amir","family":"Latif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Ajmal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reem","family":"Qamar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Naeem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdul","family":"Hameed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2011,7,26]]},"reference":[{"key":"444_CR1","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1007\/BF02158983","volume":"273","author":"E Urbach","year":"1929","unstructured":"Urbach E, Wieth C: Lipoidosis cutis et mucosae. 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