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西西里1例脂蛋白沉积症(Urbach-Wiethe病)患者细胞外基质蛋白1基因(ECM1)的新突变
1
作者
lupo i.
Cefalu A.B.
+1 位作者
Bong
i
orno M.R.
焦婷
《世界核心医学期刊文摘（皮肤病学分册）》
2006年第2期37-37,共1页
关键词
Background:
LIPOID
proteinosis
(LP)
ALSO
KNOWN
as
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西西里1例脂蛋白沉积症(Urbach-Wiethe病)患者细胞外基质蛋白1基因(ECM1)的新突变
1
作者
lupo i.
Cefalu A.B.
Bong
i
orno M.R.
焦婷
机构
Department of Internal Medicine
出处
《世界核心医学期刊文摘（皮肤病学分册）》
2006年第2期37-37,共1页
关键词
Background:
LIPOID
proteinosis
(LP)
ALSO
KNOWN
as
Keywords
Background: Lipoid proteinosis (LP), also known as Urbach- Wiethe disease, is a rare autosomal recessive disorder characterized by a hoarse voice, warty skin infiltration and scarring. Mutations within the extracellular matrix protein 1 (ECM1) gene cause LP. Objectives: We report the molecular analysis of the ECM1 gene in a Sicilian patient with LP in order to extend the mutation spectrum of this genodermatosis. Methods: We studied a 32- year- old female born from consanguineous parents who was diagnosed at the age of 11 years as having LP. She has a clinical phenotype corresponding to Urbach- Wiethe disease characterized by papules/nodules, indurated plaques and sometimes ulcerated lesions primarily involving the skin and mucous membranes, and extracutaneous features such as epilepsy, hoarseness of the voice and neuropsychiatric abnormalities. Samples of clinically affected skin obtained by biopsies were analysed after staining with haematoxylin and eosin,periodic acid- Schiff (PAS), and PAS- diastase. The whole ECM1 gene was analysed by direct sequencing. Results: We identified a homozygous nonsense mutation in exon 6 of the ECM1 gene, C589T (Q197Ter). Conclusions: Over 60% of mutations occur in exons 6 and 7. Exon 7 is alternatively spliced and frameshift mutations in exon 7 lead to ablation of the ECM1a transcript, but not the shorter ECM1b transcript that normally lacks this exon. Homozygous nonsense or frameshift mutations in exon 6 are predicted to affect both full- length ECM1a and ECM1b transcripts, whereas ECM1b should be unaffected for similar types of mutation in exon 7. It has been suggested that individuals with mutations in exon 7 have a slightly milder phenotype than those with exon 6 mutations. This is the first report with respect to a novel mutation of the ECM1 gene responsible for recessive LP in Sicily.
分类号
R596 [医药卫生—内科学]
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西西里1例脂蛋白沉积症(Urbach-Wiethe病)患者细胞外基质蛋白1基因(ECM1)的新突变
lupo i.
Cefalu A.B.
Bong
i
orno M.R.
焦婷
《世界核心医学期刊文摘（皮肤病学分册）》
2006
0
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