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A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients
BACKGROUND: Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of HME by using a scoring system and correlate the genotypes with different clinical pheno...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681804/ https://www.ncbi.nlm.nih.gov/pubmed/29126381 http://dx.doi.org/10.1186/s12881-017-0488-2 |
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author | Li, Yuchan Wang, Jian Wang, Zhigang Tang, Jingyan Yu, Tingting |
author_facet | Li, Yuchan Wang, Jian Wang, Zhigang Tang, Jingyan Yu, Tingting |
author_sort | Li, Yuchan |
collection | PubMed |
description | BACKGROUND: Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of HME by using a scoring system and correlate the genotypes with different clinical phenotypes in Chinese patients. METHODS: Forty-six patients from different families were prospectively enrolled. The mutations were identified by direct sequencing of PCR-amplified genomic DNA or by multiplex ligation-dependent probe amplification (MLPA). Patients’ demographic data, height, age of onset, number of anatomical sites, forearm deformity, and lower extremity alignment were analysed according to genotype and gender. A scoring system was used to assess the severity of the clinical phenotype. RESULTS: Thirty (60%) patients presented mutations in the EXT1 gene, and 16 (32%) presented mutations in the EXT2 gene. The mean age of onset was 2.96 years. The mean number of involved anatomic sites was 15.35. Male patients had more lesion sites than female patients (15.97 vs. 13.77, p = 0.046). The height evaluation illustrated that 67% of the patients (31 of 46) were below the 50th percentile, and the patients with EXT1 mutations were shorter than those with EXT2 mutations (p = 0.005). Forearm deformity showed a significant correlation with the number of involved anatomical sites (r = 0.382, p = 0.009). Moreover, a higher total score was found in patients with EXT1 mutations (p = 0.001). CONCLUSIONS: The clinical manifestations of 46 Chinese HME patients were similar to those in previous reports of Western populations. Patients with EXT1 mutations have a more severe clinical phenotype than patients with EXT2 mutations. |
format | Online Article Text |
id | pubmed-5681804 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-56818042017-11-17 A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients Li, Yuchan Wang, Jian Wang, Zhigang Tang, Jingyan Yu, Tingting BMC Med Genet Research Article BACKGROUND: Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of HME by using a scoring system and correlate the genotypes with different clinical phenotypes in Chinese patients. METHODS: Forty-six patients from different families were prospectively enrolled. The mutations were identified by direct sequencing of PCR-amplified genomic DNA or by multiplex ligation-dependent probe amplification (MLPA). Patients’ demographic data, height, age of onset, number of anatomical sites, forearm deformity, and lower extremity alignment were analysed according to genotype and gender. A scoring system was used to assess the severity of the clinical phenotype. RESULTS: Thirty (60%) patients presented mutations in the EXT1 gene, and 16 (32%) presented mutations in the EXT2 gene. The mean age of onset was 2.96 years. The mean number of involved anatomic sites was 15.35. Male patients had more lesion sites than female patients (15.97 vs. 13.77, p = 0.046). The height evaluation illustrated that 67% of the patients (31 of 46) were below the 50th percentile, and the patients with EXT1 mutations were shorter than those with EXT2 mutations (p = 0.005). Forearm deformity showed a significant correlation with the number of involved anatomical sites (r = 0.382, p = 0.009). Moreover, a higher total score was found in patients with EXT1 mutations (p = 0.001). CONCLUSIONS: The clinical manifestations of 46 Chinese HME patients were similar to those in previous reports of Western populations. Patients with EXT1 mutations have a more severe clinical phenotype than patients with EXT2 mutations. BioMed Central 2017-11-10 /pmc/articles/PMC5681804/ /pubmed/29126381 http://dx.doi.org/10.1186/s12881-017-0488-2 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Article Li, Yuchan Wang, Jian Wang, Zhigang Tang, Jingyan Yu, Tingting A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients |
title | A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients |
title_full | A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients |
title_fullStr | A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients |
title_full_unstemmed | A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients |
title_short | A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients |
title_sort | genotype-phenotype study of hereditary multiple exostoses in forty-six chinese patients |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681804/ https://www.ncbi.nlm.nih.gov/pubmed/29126381 http://dx.doi.org/10.1186/s12881-017-0488-2 |
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