Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations
Identifieur interne : 003799 ( Main/Exploration ); précédent : 003798; suivant : 003800Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations
Auteurs : Marco Ritelli [Italie] ; Chiara Dordoni [Italie] ; Marina Venturini [Italie] ; Nicola Chiarelli [Italie] ; Stefano Quinzani [Italie] ; Michele Traversa [Italie] ; Nicoletta Zoppi [Italie] ; Annalisa Vascellaro [Italie] ; Anita Wischmeijer [Italie] ; Emanuela Manfredini [Italie] ; Livia Garavelli [Italie] ; Piergiacomo Calzavara-Pinton [Italie] ; Marina Colombi [Italie]Source :
- Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2013.
Abstract
Classic Ehlers–Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility. A recent study demonstrated that more than 90% of patients who satisfy all of these major criteria harbor a type V collagen (COLLV) defect.
This cohort included 40 patients with cEDS who were clinically diagnosed according to the Villefranche nosology. The flowchart that was adopted for mutation detection consisted of sequencing the
We report the clinical and molecular characterization of 40 patients from 28 families, consisting of 14 pediatric patients and 26 adults. A family history of cEDS was present in 9 patients. The majority of the patients fulfilled all the major diagnostic criteria for cEDS; atrophic scars were absent in 2 females, skin hyperextensibility was not detected in a male and joint hypermobility was negative in 8 patients (20% of the entire cohort). Wide inter- and intra-familial phenotypic heterogeneity was observed. We identified causal mutations with a detection rate of approximately 93%. In 25/28 probands,
Our findings highlight that the three major criteria for cEDS are useful and sufficient for cEDS clinical diagnosis in the large majority of the patients. The borderline patients for whom these criteria fail can be diagnosed when minor signs of connective tissue diseases and family history are present and when genetic testing reveals a defect in COLLV. Our data also confirm that
Url:
DOI: 10.1186/1750-1172-8-58
PubMed: 23587214
PubMed Central: 3653713
Affiliations:
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 <italic>COL5A1</italic>
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novel mutations</title>
<author><name sortKey="Ritelli, Marco" sort="Ritelli, Marco" uniqKey="Ritelli M" first="Marco" last="Ritelli">Marco Ritelli</name>
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<author><name sortKey="Dordoni, Chiara" sort="Dordoni, Chiara" uniqKey="Dordoni C" first="Chiara" last="Dordoni">Chiara Dordoni</name>
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<author><name sortKey="Venturini, Marina" sort="Venturini, Marina" uniqKey="Venturini M" first="Marina" last="Venturini">Marina Venturini</name>
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<author><name sortKey="Chiarelli, Nicola" sort="Chiarelli, Nicola" uniqKey="Chiarelli N" first="Nicola" last="Chiarelli">Nicola Chiarelli</name>
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<author><name sortKey="Quinzani, Stefano" sort="Quinzani, Stefano" uniqKey="Quinzani S" first="Stefano" last="Quinzani">Stefano Quinzani</name>
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<author><name sortKey="Traversa, Michele" sort="Traversa, Michele" uniqKey="Traversa M" first="Michele" last="Traversa">Michele Traversa</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123 Brescia</wicri:regionArea>
<wicri:noRegion>25123 Brescia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zoppi, Nicoletta" sort="Zoppi, Nicoletta" uniqKey="Zoppi N" first="Nicoletta" last="Zoppi">Nicoletta Zoppi</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123 Brescia, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123 Brescia</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Vascellaro, Annalisa" sort="Vascellaro, Annalisa" uniqKey="Vascellaro A" first="Annalisa" last="Vascellaro">Annalisa Vascellaro</name>
<affiliation wicri:level="1"><nlm:aff id="I2">Department of Dermatology, University Hospital Spedali Civili, Brescia, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Dermatology, University Hospital Spedali Civili, Brescia</wicri:regionArea>
<wicri:noRegion>Brescia</wicri:noRegion>
</affiliation>
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<author><name sortKey="Wischmeijer, Anita" sort="Wischmeijer, Anita" uniqKey="Wischmeijer A" first="Anita" last="Wischmeijer">Anita Wischmeijer</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>Clinical Genetics Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S. Maria Nuova, Reggio Emilia</wicri:regionArea>
<wicri:noRegion>Reggio Emilia</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I4">Department of Medical Genetics, Policlinico Sant’Orsola-Malpighi, University of Bologna, Bologna, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Medical Genetics, Policlinico Sant’Orsola-Malpighi, University of Bologna, Bologna</wicri:regionArea>
<wicri:noRegion>Bologna</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Manfredini, Emanuela" sort="Manfredini, Emanuela" uniqKey="Manfredini E" first="Emanuela" last="Manfredini">Emanuela Manfredini</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>Dipartimento Materno Infantile, Ospedale Niguarda Ca’ Granda, Milan</wicri:regionArea>
<placeName><settlement type="city">Milan</settlement>
<region nuts="2">Lombardie</region>
</placeName>
</affiliation>
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<author><name sortKey="Garavelli, Livia" sort="Garavelli, Livia" uniqKey="Garavelli L" first="Livia" last="Garavelli">Livia Garavelli</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Clinical Genetics Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S. Maria Nuova, Reggio Emilia, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Clinical Genetics Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S. Maria Nuova, Reggio Emilia</wicri:regionArea>
<wicri:noRegion>Reggio Emilia</wicri:noRegion>
</affiliation>
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<author><name sortKey="Calzavara Pinton, Piergiacomo" sort="Calzavara Pinton, Piergiacomo" uniqKey="Calzavara Pinton P" first="Piergiacomo" last="Calzavara-Pinton">Piergiacomo Calzavara-Pinton</name>
<affiliation wicri:level="1"><nlm:aff id="I2">Department of Dermatology, University Hospital Spedali Civili, Brescia, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Dermatology, University Hospital Spedali Civili, Brescia</wicri:regionArea>
<wicri:noRegion>Brescia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Colombi, Marina" sort="Colombi, Marina" uniqKey="Colombi M" first="Marina" last="Colombi">Marina Colombi</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123 Brescia, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123 Brescia</wicri:regionArea>
<wicri:noRegion>25123 Brescia</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Orphanet Journal of Rare Diseases</title>
<idno type="eISSN">1750-1172</idno>
<imprint><date when="2013">2013</date>
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<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>Classic Ehlers–Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility. A recent study demonstrated that more than 90% of patients who satisfy all of these major criteria harbor a type V collagen (COLLV) defect.</p>
</sec>
<sec><title>Methods</title>
<p>This cohort included 40 patients with cEDS who were clinically diagnosed according to the Villefranche nosology. The flowchart that was adopted for mutation detection consisted of sequencing the <italic>COL5A1</italic>
gene and, if no mutation was detected, <italic>COL5A2</italic>
analysis. In the negative patients the presence of large genomic rearrangements in <italic>COL5A1</italic>
was investigated using MLPA, and positive results were confirmed via SNP-array analysis.</p>
</sec>
<sec><title>Results</title>
<p>We report the clinical and molecular characterization of 40 patients from 28 families, consisting of 14 pediatric patients and 26 adults. A family history of cEDS was present in 9 patients. The majority of the patients fulfilled all the major diagnostic criteria for cEDS; atrophic scars were absent in 2 females, skin hyperextensibility was not detected in a male and joint hypermobility was negative in 8 patients (20% of the entire cohort). Wide inter- and intra-familial phenotypic heterogeneity was observed. We identified causal mutations with a detection rate of approximately 93%. In 25/28 probands, <italic>COL5A1</italic>
or <italic>COL5A2</italic>
mutations were detected. Twenty-one mutations were in the <italic>COL5A1</italic>
gene, 18 of which were novel (2 recurrent). Of these, 16 mutations led to nonsense-mediated mRNA decay (NMD) and to COLLV haploinsufficiency and 5 mutations were structural. Two novel <italic>COL5A2</italic>
splice mutations were detected in patients with the most severe phenotypes. The known p. (Arg312Cys) mutation in the <italic>COL1A1</italic>
gene was identified in one patient with vascular-like cEDS.</p>
</sec>
<sec><title>Conclusions</title>
<p>Our findings highlight that the three major criteria for cEDS are useful and sufficient for cEDS clinical diagnosis in the large majority of the patients. The borderline patients for whom these criteria fail can be diagnosed when minor signs of connective tissue diseases and family history are present and when genetic testing reveals a defect in COLLV. Our data also confirm that <italic>COL5A1</italic>
and <italic>COL5A2</italic>
are the major, if not the only, genes involved in cEDS.</p>
</sec>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Steinmann, B" uniqKey="Steinmann B">B Steinmann</name>
</author>
<author><name sortKey="Royce, Pm" uniqKey="Royce P">PM Royce</name>
</author>
<author><name sortKey="Superti Furga, A" uniqKey="Superti Furga A">A Superti-Furga</name>
</author>
</analytic>
</biblStruct>
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<author><name sortKey="Celletti, C" uniqKey="Celletti C">C Celletti</name>
</author>
<author><name sortKey="Celli, M" uniqKey="Celli M">M Celli</name>
</author>
<author><name sortKey="Morrone, A" uniqKey="Morrone A">A Morrone</name>
</author>
<author><name sortKey="Colombi, M" uniqKey="Colombi M">M Colombi</name>
</author>
<author><name sortKey="Camerota, F" uniqKey="Camerota F">F Camerota</name>
</author>
<author><name sortKey="Grammatico, P" uniqKey="Grammatico P">P Grammatico</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<affiliations><list><country><li>Italie</li>
</country>
<region><li>Lombardie</li>
</region>
<settlement><li>Milan</li>
</settlement>
</list>
<tree><country name="Italie"><noRegion><name sortKey="Ritelli, Marco" sort="Ritelli, Marco" uniqKey="Ritelli M" first="Marco" last="Ritelli">Marco Ritelli</name>
</noRegion>
<name sortKey="Calzavara Pinton, Piergiacomo" sort="Calzavara Pinton, Piergiacomo" uniqKey="Calzavara Pinton P" first="Piergiacomo" last="Calzavara-Pinton">Piergiacomo Calzavara-Pinton</name>
<name sortKey="Chiarelli, Nicola" sort="Chiarelli, Nicola" uniqKey="Chiarelli N" first="Nicola" last="Chiarelli">Nicola Chiarelli</name>
<name sortKey="Colombi, Marina" sort="Colombi, Marina" uniqKey="Colombi M" first="Marina" last="Colombi">Marina Colombi</name>
<name sortKey="Dordoni, Chiara" sort="Dordoni, Chiara" uniqKey="Dordoni C" first="Chiara" last="Dordoni">Chiara Dordoni</name>
<name sortKey="Garavelli, Livia" sort="Garavelli, Livia" uniqKey="Garavelli L" first="Livia" last="Garavelli">Livia Garavelli</name>
<name sortKey="Manfredini, Emanuela" sort="Manfredini, Emanuela" uniqKey="Manfredini E" first="Emanuela" last="Manfredini">Emanuela Manfredini</name>
<name sortKey="Quinzani, Stefano" sort="Quinzani, Stefano" uniqKey="Quinzani S" first="Stefano" last="Quinzani">Stefano Quinzani</name>
<name sortKey="Traversa, Michele" sort="Traversa, Michele" uniqKey="Traversa M" first="Michele" last="Traversa">Michele Traversa</name>
<name sortKey="Vascellaro, Annalisa" sort="Vascellaro, Annalisa" uniqKey="Vascellaro A" first="Annalisa" last="Vascellaro">Annalisa Vascellaro</name>
<name sortKey="Venturini, Marina" sort="Venturini, Marina" uniqKey="Venturini M" first="Marina" last="Venturini">Marina Venturini</name>
<name sortKey="Wischmeijer, Anita" sort="Wischmeijer, Anita" uniqKey="Wischmeijer A" first="Anita" last="Wischmeijer">Anita Wischmeijer</name>
<name sortKey="Wischmeijer, Anita" sort="Wischmeijer, Anita" uniqKey="Wischmeijer A" first="Anita" last="Wischmeijer">Anita Wischmeijer</name>
<name sortKey="Zoppi, Nicoletta" sort="Zoppi, Nicoletta" uniqKey="Zoppi N" first="Nicoletta" last="Zoppi">Nicoletta Zoppi</name>
</country>
</tree>
</affiliations>
</record>
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