Lipoid proteinosis: Phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1

Youssefian, L. and Vahidnezhad, H. and Daneshpazhooh, M. and Abdollahzadeh, S. and Talari, H.R. and Khoshnevisan, A. and Chams-Davatchi, C. and Mobasher, R. and Li, Q. and Uitto, J. and Akhondzadeh, S. and Tabrizi, M. (2015) Lipoid proteinosis: Phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1. Experimental Dermatology, 24 (3). pp. 220-222.

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Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the ECM1 gene, and previous studies have noted phenotypic variability. In this study, we examined 12 patients representing three Iranian families for clinical manifestations and genotyped them for mutations in ECM1. LP was diagnosed with characteristic mucocutaneous and neurologic manifestations. Five patients were also subjected to magnetic resonance imaging (MRI)/computed tomography (CT) scan of the central nervous system. DNA was isolated from peripheral blood from patients and their clinically unaffected relatives, and mutations in ECM1 were sought by PCR-based amplification of all exons and flanking intronic sequences, followed by bidirectional Sanger sequencing. Significant phenotypic variability in this multisystem disorder, including presence of convulsions and epilepsy in about half of the patients was noted. In most cases, this was associated with calcifications in the brain detected by MRI/CT scans. Genotyping of the affected individuals in three families from the central region of Iran revealed presence of homozygous c.507delT mutation in ECM1, reflecting the observed consanguinity in these families. This large cohort revealed extensive phenotypic variability in individuals with the same mutation in ECM1. This observation suggests a role for genetic and epigenetic as well as environmental modulation of the phenotype. Identification of mutations allows screening of unaffected individuals for presence or absence of this mutation in extended LP families, with implications for genetic counseling. © 2015 John Wiley & Sons A/S.

Item Type: Article
Additional Information: cited By 3
Uncontrolled Keywords: extracellular matrix protein 1; protein; unclassified drug; ECM1 protein, human; scleroprotein, adult; allele; Article; blood sampling; brain calcification; central nervous system; child; clinical article; cohort analysis; computer assisted tomography; consanguineous marriage; consanguinity; controlled study; convulsion; DNA flanking region; DNA isolation; DNA sequence; exon; experimental design; family; female; gene deletion; genotype; heterozygote; hoarseness; homozygosity; human; intron; Iran; Iranian (citizen); leukocyte; lipoid proteinosis; male; mutational analysis; neuroimaging; nuclear magnetic resonance imaging; phenotypic variation; polymerase chain reaction; seizure; wild type; adolescent; complication; gene deletion; genetics; lipoid proteinosis; middle aged; nucleotide sequence; phenotype; preschool child; young adult, Adolescent; Adult; Child; Child, Preschool; DNA Mutational Analysis; Extracellular Matrix Proteins; Female; Humans; Iran; Lipoid Proteinosis of Urbach and Wiethe; Male; Middle Aged; Phenotype; Sequence Deletion; Young Adult
Subjects: Biochemistry, Genetics and Molecular Biology
Divisions: Faculty of Medicine > Clinical Sciences > Department of Radiology
Depositing User: editor . 2
Date Deposited: 06 Mar 2017 18:32
Last Modified: 06 Mar 2017 18:32

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