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Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations
OBJECTIVE: Ullrich congenital muscular dystrophy (UCMD) corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI). We studied four unrelated families with six affected children that had typical UCMD with dominant...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Shahid Beheshti University of Medical Sciences
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943075/ https://www.ncbi.nlm.nih.gov/pubmed/24665301 |
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author | BOZORGMEHR, Bita KARIMINEJAD, Ariana NAFISSI, Shahriar JEBELLI, Bita ANDONI, Urtizberea GARTIOUx, Corine LEDEUIL, Celine ALLAMAND, Valérie RICHARD, Pascale KARIMINEJAD, Mohammad-Hassan |
author_facet | BOZORGMEHR, Bita KARIMINEJAD, Ariana NAFISSI, Shahriar JEBELLI, Bita ANDONI, Urtizberea GARTIOUx, Corine LEDEUIL, Celine ALLAMAND, Valérie RICHARD, Pascale KARIMINEJAD, Mohammad-Hassan |
author_sort | BOZORGMEHR, Bita |
collection | PubMed |
description | OBJECTIVE: Ullrich congenital muscular dystrophy (UCMD) corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI). We studied four unrelated families with six affected children that had typical UCMD with dominant and recessive inheritance. MATERIALS & METHODS: Four unrelated Iranian families with six affected children with typical UCMD were analyzed for COLVI secretion in skin fibroblast culture and the secretion of COLVI in skin fibroblast culture using quantitative RT–PCR (Q-RT-PCR), and mutation identification was performed by sequencing of complementary DNA. RESULTS: COL VI secretion was altered in all studied fibroblast cultures. Two affected sibs carried a homozygous nonsense mutation in exon 12 of COL6A2, while another patient had a large heterozygous deletion in exon 5-8 of COL6A2. The two other affected sibs had homozygote mutation in exon 24 of COL6A2, and the last one was homozygote in COL6A1. CONCLUSION: In this study, we found out variability in clinical findings and genetic inheritance among UCMD patients, so that the patient with complete absence of COLVI was severely affected and had a large heterozygous deletion in COL6A2. In contrast, the patients with homozygous deletion had mild to moderate decrease in the secretion of COL VI and were mildly to moderately affected. |
format | Online Article Text |
id | pubmed-3943075 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Shahid Beheshti University of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-39430752014-03-24 Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations BOZORGMEHR, Bita KARIMINEJAD, Ariana NAFISSI, Shahriar JEBELLI, Bita ANDONI, Urtizberea GARTIOUx, Corine LEDEUIL, Celine ALLAMAND, Valérie RICHARD, Pascale KARIMINEJAD, Mohammad-Hassan Iran J Child Neurol Original Article OBJECTIVE: Ullrich congenital muscular dystrophy (UCMD) corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI). We studied four unrelated families with six affected children that had typical UCMD with dominant and recessive inheritance. MATERIALS & METHODS: Four unrelated Iranian families with six affected children with typical UCMD were analyzed for COLVI secretion in skin fibroblast culture and the secretion of COLVI in skin fibroblast culture using quantitative RT–PCR (Q-RT-PCR), and mutation identification was performed by sequencing of complementary DNA. RESULTS: COL VI secretion was altered in all studied fibroblast cultures. Two affected sibs carried a homozygous nonsense mutation in exon 12 of COL6A2, while another patient had a large heterozygous deletion in exon 5-8 of COL6A2. The two other affected sibs had homozygote mutation in exon 24 of COL6A2, and the last one was homozygote in COL6A1. CONCLUSION: In this study, we found out variability in clinical findings and genetic inheritance among UCMD patients, so that the patient with complete absence of COLVI was severely affected and had a large heterozygous deletion in COL6A2. In contrast, the patients with homozygous deletion had mild to moderate decrease in the secretion of COL VI and were mildly to moderately affected. Shahid Beheshti University of Medical Sciences 2013 /pmc/articles/PMC3943075/ /pubmed/24665301 Text en © 2013: Iranian Journal of Child Neurology This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Article BOZORGMEHR, Bita KARIMINEJAD, Ariana NAFISSI, Shahriar JEBELLI, Bita ANDONI, Urtizberea GARTIOUx, Corine LEDEUIL, Celine ALLAMAND, Valérie RICHARD, Pascale KARIMINEJAD, Mohammad-Hassan Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations |
title | Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations |
title_full | Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations |
title_fullStr | Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations |
title_full_unstemmed | Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations |
title_short | Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations |
title_sort | ullrich congenital muscular dystrophy (ucmd): clinical and genetic correlations |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943075/ https://www.ncbi.nlm.nih.gov/pubmed/24665301 |
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