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Article

Lipoid proteinosis: A clinical and molecular study in Egyptian patients.

Gene - 10 Sept 2017

Afifi Hanan H, Amr Khalda S, Tosson Angie M S, Hassan Tarak A, Mehrez Mennat I, El-Kamah Ghada Y

Abstract excerpt

Lipoid proteinosis (LP) is an autosomal recessive disorder caused by the loss of function of ECM1 gene. Clinical features include varying degrees of skin thickening, hoarseness of voice and less frequently neuropsychiatric abnormalities. Twelve patients from ten unrelated families with a clinical diagnosis of lipoid proteinosis were enrolled in this study. Extraction of DNA samples of the 12 patients and their...

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Identifiers

PMID: 28720532
DOI: 10.1016/j.gene.2017.07.026

Genes

ECM1

Variants

Provenance

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Lipoid proteinosis: A clinical and molecular study in Egyptian patients.PMID 28720532Read ↗

Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab familiesSemantic proximity Read ↗

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.Semantic proximity Read ↗

A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye.Semantic proximity Read ↗

Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis.Semantic proximity Read ↗

A novel homozygous 62-bp insertion in ECM1 causes lipoid proteinosis in a multigeneration Pakistani family.Semantic proximity Read ↗

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.Semantic proximity Read ↗

Oral and maxillofacial manifestations of lipoid proteinosis with a novel ECM1 mutation: case report and literature review.Semantic proximity Read ↗

Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.Semantic proximity Read ↗

A novel missense mutation of the ECM1 gene in a Chinese patient with lipoid proteinosis.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: ECM1. Disease: Lipoid Proteinosis.Semantic proximity Read ↗

A novel splice-site ECM1 gene mutation in a Lebanese girl with lipoid proteinosis.Semantic proximity Read ↗

Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA.Semantic proximity Read ↗

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