Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: BOZORGMEHR, Bita, KARIMINEJAD, Ariana, NAFISSI, Shahriar, JEBELLI, Bita, ANDONI, Urtizberea, GARTIOUx, Corine, LEDEUIL, Celine, ALLAMAND, Valérie, RICHARD, Pascale, KARIMINEJAD, Mohammad-Hassan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943075/
https://www.ncbi.nlm.nih.gov/pubmed/24665301
_version_ 1782479176185413632
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
work_keys_str_mv AT bozorgmehrbita ullrichcongenitalmusculardystrophyucmdclinicalandgeneticcorrelations
AT kariminejadariana ullrichcongenitalmusculardystrophyucmdclinicalandgeneticcorrelations
AT nafissishahriar ullrichcongenitalmusculardystrophyucmdclinicalandgeneticcorrelations
AT jebellibita ullrichcongenitalmusculardystrophyucmdclinicalandgeneticcorrelations
AT andoniurtizberea ullrichcongenitalmusculardystrophyucmdclinicalandgeneticcorrelations
AT gartiouxcorine ullrichcongenitalmusculardystrophyucmdclinicalandgeneticcorrelations
AT ledeuilceline ullrichcongenitalmusculardystrophyucmdclinicalandgeneticcorrelations
AT allamandvalerie ullrichcongenitalmusculardystrophyucmdclinicalandgeneticcorrelations
AT richardpascale ullrichcongenitalmusculardystrophyucmdclinicalandgeneticcorrelations
AT kariminejadmohammadhassan ullrichcongenitalmusculardystrophyucmdclinicalandgeneticcorrelations