Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis
Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by malfunction mutations in extracellular matrix protein 1 gene (ECM1) with common features such as hoarseness of the voice, infiltration of the skin and mucosa, and varying degrees of skin scars. We studied two LP patients. Clini...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Tehran University of Medical Sciences
2018-08-01
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| Series: | Acta Medica Iranica |
| Subjects: | |
| Online Access: | https://acta.tums.ac.ir/index.php/acta/article/view/6466 |
| _version_ | 1818058877774594048 |
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| author | Saeid Morovvati Paniz Farshadyeganeh Mojdeh Hamidizadeh Ziba Morovvati Samaneh Doost Mohammadi |
| author_facet | Saeid Morovvati Paniz Farshadyeganeh Mojdeh Hamidizadeh Ziba Morovvati Samaneh Doost Mohammadi |
| author_sort | Saeid Morovvati |
| collection | DOAJ |
| description | Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by malfunction mutations in extracellular matrix protein 1 gene (ECM1) with common features such as hoarseness of the voice, infiltration of the skin and mucosa, and varying degrees of skin scars. We studied two LP patients. Clinical and genetic examination and genetic counseling were carried out, and their family pedigree was drawn. Two different variants were found in exon 6 of ECM1 gene in both patients: a homozygous deletion of a nucleotide T at position 507 and a missense variant at nucleotide 389 which the first was a pathogenic mutation and the other one was a non-pathogenic variant. |
| first_indexed | 2024-12-10T13:07:37Z |
| format | Article |
| id | doaj.art-337ba50df44f42cc99eae0495b8ec93d |
| institution | Directory Open Access Journal |
| issn | 0044-6025 1735-9694 |
| language | English |
| last_indexed | 2024-12-10T13:07:37Z |
| publishDate | 2018-08-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Acta Medica Iranica |
| spelling | doaj.art-337ba50df44f42cc99eae0495b8ec93d2022-12-22T01:47:47ZengTehran University of Medical SciencesActa Medica Iranica0044-60251735-96942018-08-015675327Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid ProteinosisSaeid Morovvati0Paniz Farshadyeganeh1Mojdeh Hamidizadeh2Ziba Morovvati3Samaneh Doost Mohammadi4Human Genetic Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran.School of Basic Sciences, Tehran Medical Branch, Islamic Azad University, Tehran, Iran.School of Basic Sciences, Islamic Azad University Tehran Medical Branch, Tehran, Iran.Department of Medical Genetics, Faculty of Advanced Medical Technologies, Golestan University of Medical Sciences, Gorgan, Iran.Faculty of Basic Sciences, Islamic Azad University of Zanjan, Zanjan, Iran.Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by malfunction mutations in extracellular matrix protein 1 gene (ECM1) with common features such as hoarseness of the voice, infiltration of the skin and mucosa, and varying degrees of skin scars. We studied two LP patients. Clinical and genetic examination and genetic counseling were carried out, and their family pedigree was drawn. Two different variants were found in exon 6 of ECM1 gene in both patients: a homozygous deletion of a nucleotide T at position 507 and a missense variant at nucleotide 389 which the first was a pathogenic mutation and the other one was a non-pathogenic variant.https://acta.tums.ac.ir/index.php/acta/article/view/6466Extracellular matrix protein 1 geneLipoid proteinosisPathogenic and non-pathogenicMutations |
| spellingShingle | Saeid Morovvati Paniz Farshadyeganeh Mojdeh Hamidizadeh Ziba Morovvati Samaneh Doost Mohammadi Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis Acta Medica Iranica Extracellular matrix protein 1 gene Lipoid proteinosis Pathogenic and non-pathogenic Mutations |
| title | Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis |
| title_full | Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis |
| title_fullStr | Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis |
| title_full_unstemmed | Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis |
| title_short | Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis |
| title_sort | mutation analysis of ecm1 gene in two related iranian patients affected by lipoid proteinosis |
| topic | Extracellular matrix protein 1 gene Lipoid proteinosis Pathogenic and non-pathogenic Mutations |
| url | https://acta.tums.ac.ir/index.php/acta/article/view/6466 |
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