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Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas
BACKGROUND: Hereditary multiple osteochondromas (HMO), previously named hereditary multiple exostoses (HME), is an autosomal dominant skeletal disorder characterized by the growth of multiple osteochondromas and is associated with bony deformity, skeletal growth reduction, nerve compression, restric...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Dove Medical Press
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5189706/ https://www.ncbi.nlm.nih.gov/pubmed/28053536 http://dx.doi.org/10.2147/TCRM.S111717 |
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author | Akbaroghli, Susan Balali, Maryam Kamalidehghan, Behnam Saber, Siamak Aryani, Omid Meng, Goh Yong Houshmand, Massoud |
author_facet | Akbaroghli, Susan Balali, Maryam Kamalidehghan, Behnam Saber, Siamak Aryani, Omid Meng, Goh Yong Houshmand, Massoud |
author_sort | Akbaroghli, Susan |
collection | PubMed |
description | BACKGROUND: Hereditary multiple osteochondromas (HMO), previously named hereditary multiple exostoses (HME), is an autosomal dominant skeletal disorder characterized by the growth of multiple osteochondromas and is associated with bony deformity, skeletal growth reduction, nerve compression, restriction of joint motion, and premature osteoarthrosis. HMO is genetically heterogeneous, localized on at least three chromosomal loci including 8q24.1 (EXT1), 11p11-p13 (EXT2), and 19p (EXT3). The median age of diagnosis is 3 years; almost all affected individuals are diagnosed by age 12. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%). METHODS AND RESULTS: This study was performed on an Iranian family with nine affected individuals from three consecutive generations. Here, the proband was an affected woman who received genetic counseling prior to pregnancy. All exons of the three genes were examined in the proband using polymerase chain reaction and sequencing methods (the last member of this family is a male with severe deformities and lesions, especially around his large joints). Exon 4 of EXT1 (c.1235 G>A) was changed in affected individuals. This mutation alters tryptophan to a premature stop codon on amino acid position 412 (p.Trp412x). CONCLUSION: The outcome of this study has extended the genotypic spectrum of Iranian patients with HMO, revealing a way for improving detection and genetic counseling in carriers. |
format | Online Article Text |
id | pubmed-5189706 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Dove Medical Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-51897062017-01-04 Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas Akbaroghli, Susan Balali, Maryam Kamalidehghan, Behnam Saber, Siamak Aryani, Omid Meng, Goh Yong Houshmand, Massoud Ther Clin Risk Manag Original Research BACKGROUND: Hereditary multiple osteochondromas (HMO), previously named hereditary multiple exostoses (HME), is an autosomal dominant skeletal disorder characterized by the growth of multiple osteochondromas and is associated with bony deformity, skeletal growth reduction, nerve compression, restriction of joint motion, and premature osteoarthrosis. HMO is genetically heterogeneous, localized on at least three chromosomal loci including 8q24.1 (EXT1), 11p11-p13 (EXT2), and 19p (EXT3). The median age of diagnosis is 3 years; almost all affected individuals are diagnosed by age 12. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%). METHODS AND RESULTS: This study was performed on an Iranian family with nine affected individuals from three consecutive generations. Here, the proband was an affected woman who received genetic counseling prior to pregnancy. All exons of the three genes were examined in the proband using polymerase chain reaction and sequencing methods (the last member of this family is a male with severe deformities and lesions, especially around his large joints). Exon 4 of EXT1 (c.1235 G>A) was changed in affected individuals. This mutation alters tryptophan to a premature stop codon on amino acid position 412 (p.Trp412x). CONCLUSION: The outcome of this study has extended the genotypic spectrum of Iranian patients with HMO, revealing a way for improving detection and genetic counseling in carriers. Dove Medical Press 2016-12-20 /pmc/articles/PMC5189706/ /pubmed/28053536 http://dx.doi.org/10.2147/TCRM.S111717 Text en © 2017 Akbaroghli et al. This work is published and licensed by Dove Medical Press Limited The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. |
spellingShingle | Original Research Akbaroghli, Susan Balali, Maryam Kamalidehghan, Behnam Saber, Siamak Aryani, Omid Meng, Goh Yong Houshmand, Massoud Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas |
title | Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas |
title_full | Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas |
title_fullStr | Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas |
title_full_unstemmed | Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas |
title_short | Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas |
title_sort | identification of a new mutation in an iranian family with hereditary multiple osteochondromas |
topic | Original Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5189706/ https://www.ncbi.nlm.nih.gov/pubmed/28053536 http://dx.doi.org/10.2147/TCRM.S111717 |
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