An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations
Identifieur interne : 000A18 ( Pmc/Checkpoint ); précédent : 000A17; suivant : 000A19An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations
Auteurs : Anjali Patwardhan [États-Unis] ; Charles H. Spencer [États-Unis]Source :
- Pediatric Rheumatology Online Journal [ 1546-0096 ] ; 2019.
Abstract
The COPA syndrome is a newly recognized monogenic, autosomal dominant autoimmune disease presenting mostly presenting in childhood. Clinical features include inflammation of the lungs, kidneys, and joints. Approximately twenty-six patients with COPA syndrome worldwide have been investigated all originating from eight families. Patients with this syndrome exhibit heterozygous monogenic missense mutations in the WD40 domain. This domain is a functionally-significant area of the alpha subunit of coatomer-associated protein (COPα) which encodes the coat protein complex I (COPI). The COPI dysfunction is also associated with autoantibody expansion. We report two patients with COPA syndrome.
All testing and molecular genetic analysis were performed after obtaining the informed consent of both the patient and parents. A retrospective chart review was carried out on both the patients. Demographic, clinical and laboratory findings were abstracted from outpatient and inpatient encounters. Pulmonary function tests (PFTs), chest computed tomography (CT) scans, and lung biopsy histopathology reports were also reviewed and summarized.
The index case and the father of the child both demonstrated a unique inflammatory pulmonary, arthritis, and renal disease triad starting in early childhood including pulmonary hemorrhage. The two patients had a novel COPA mutation previously undescribed.
To date, only four pathological, genetic mutations have been reported that are compatible with COPA syndrome. We here report two patients with COPA syndrome within the same family with a novel COPA gene mutation different than the heterozygous monogenic missense mutations in the WD40 domain and distinct from the clinical phenotypes reported in the literature so far.
Url:
DOI: 10.1186/s12969-019-0359-9
PubMed: 31455335
PubMed Central: 6712851
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations</title>
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<front><div type="abstract" xml:lang="en"><sec><title>Introduction</title>
<p id="Par1">The COPA syndrome is a newly recognized monogenic, autosomal dominant autoimmune disease presenting mostly presenting in childhood. Clinical features include inflammation of the lungs, kidneys, and joints. Approximately twenty-six patients with COPA syndrome worldwide have been investigated all originating from eight families. Patients with this syndrome exhibit heterozygous monogenic missense mutations in the WD40 domain. This domain is a functionally-significant area of the alpha subunit of coatomer-associated protein (COPα) which encodes the coat protein complex I (COPI). The COPI dysfunction is also associated with autoantibody expansion. We report two patients with COPA syndrome.</p>
</sec>
<sec><title>Methods</title>
<p id="Par2">All testing and molecular genetic analysis were performed after obtaining the informed consent of both the patient and parents. A retrospective chart review was carried out on both the patients. Demographic, clinical and laboratory findings were abstracted from outpatient and inpatient encounters. Pulmonary function tests (PFTs), chest computed tomography (CT) scans, and lung biopsy histopathology reports were also reviewed and summarized.</p>
</sec>
<sec><title>Results</title>
<p id="Par3">The index case and the father of the child both demonstrated a unique inflammatory pulmonary, arthritis, and renal disease triad starting in early childhood including pulmonary hemorrhage. The two patients had a novel COPA mutation previously undescribed.</p>
</sec>
<sec><title>Conclusions</title>
<p id="Par4">To date, only four pathological, genetic mutations have been reported that are compatible with COPA syndrome. We here report two patients with COPA syndrome within the same family with a novel COPA gene mutation different than the heterozygous monogenic missense mutations in the WD40 domain and distinct from the clinical phenotypes reported in the literature so far.</p>
</sec>
</div>
</front>
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<front><journal-meta><journal-id journal-id-type="nlm-ta">Pediatr Rheumatol Online J</journal-id>
<journal-id journal-id-type="iso-abbrev">Pediatr Rheumatol Online J</journal-id>
<journal-title-group><journal-title>Pediatric Rheumatology Online Journal</journal-title>
</journal-title-group>
<issn pub-type="epub">1546-0096</issn>
<publisher><publisher-name>BioMed Central</publisher-name>
<publisher-loc>London</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">31455335</article-id>
<article-id pub-id-type="pmc">6712851</article-id>
<article-id pub-id-type="publisher-id">359</article-id>
<article-id pub-id-type="doi">10.1186/s12969-019-0359-9</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Review</subject>
</subj-group>
</article-categories>
<title-group><article-title>An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0002-1467-1011</contrib-id>
<name><surname>Patwardhan</surname>
<given-names>Anjali</given-names>
</name>
<address><phone>6142662187</phone>
<email>doctoranjali@hotmail.com</email>
</address>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Spencer</surname>
<given-names>Charles H.</given-names>
</name>
<address><email>spencercharlesh1@gmail.com</email>
</address>
<xref ref-type="aff" rid="Aff2">2</xref>
</contrib>
<aff id="Aff1"><label>1</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2162 3504</institution-id>
<institution-id institution-id-type="GRID">grid.134936.a</institution-id>
<institution>University of Missouri School of Medicine,</institution>
</institution-wrap>
400 Keene Street, Columbia, MO 65201 USA</aff>
<aff id="Aff2"><label>2</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0407</institution-id>
<institution-id institution-id-type="GRID">grid.410721.1</institution-id>
<institution>University of Mississippi Medical Center, Batson Children’s Hospital,</institution>
</institution-wrap>
Rm 289, 2500 North State St, Jackson, MS 39216 USA</aff>
</contrib-group>
<pub-date pub-type="epub"><day>27</day>
<month>8</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>27</day>
<month>8</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="collection"><year>2019</year>
</pub-date>
<volume>17</volume>
<elocation-id>59</elocation-id>
<history><date date-type="received"><day>5</day>
<month>6</month>
<year>2019</year>
</date>
<date date-type="accepted"><day>7</day>
<month>8</month>
<year>2019</year>
</date>
</history>
<permissions><copyright-statement>© The Author(s). 2019</copyright-statement>
<license license-type="OpenAccess"><license-p><bold>Open Access</bold>
This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</ext-link>
), 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 (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/publicdomain/zero/1.0/">http://creativecommons.org/publicdomain/zero/1.0/</ext-link>
) applies to the data made available in this article, unless otherwise stated.</license-p>
</license>
</permissions>
<abstract id="Abs1"><sec><title>Introduction</title>
<p id="Par1">The COPA syndrome is a newly recognized monogenic, autosomal dominant autoimmune disease presenting mostly presenting in childhood. Clinical features include inflammation of the lungs, kidneys, and joints. Approximately twenty-six patients with COPA syndrome worldwide have been investigated all originating from eight families. Patients with this syndrome exhibit heterozygous monogenic missense mutations in the WD40 domain. This domain is a functionally-significant area of the alpha subunit of coatomer-associated protein (COPα) which encodes the coat protein complex I (COPI). The COPI dysfunction is also associated with autoantibody expansion. We report two patients with COPA syndrome.</p>
</sec>
<sec><title>Methods</title>
<p id="Par2">All testing and molecular genetic analysis were performed after obtaining the informed consent of both the patient and parents. A retrospective chart review was carried out on both the patients. Demographic, clinical and laboratory findings were abstracted from outpatient and inpatient encounters. Pulmonary function tests (PFTs), chest computed tomography (CT) scans, and lung biopsy histopathology reports were also reviewed and summarized.</p>
</sec>
<sec><title>Results</title>
<p id="Par3">The index case and the father of the child both demonstrated a unique inflammatory pulmonary, arthritis, and renal disease triad starting in early childhood including pulmonary hemorrhage. The two patients had a novel COPA mutation previously undescribed.</p>
</sec>
<sec><title>Conclusions</title>
<p id="Par4">To date, only four pathological, genetic mutations have been reported that are compatible with COPA syndrome. We here report two patients with COPA syndrome within the same family with a novel COPA gene mutation different than the heterozygous monogenic missense mutations in the WD40 domain and distinct from the clinical phenotypes reported in the literature so far.</p>
</sec>
</abstract>
<kwd-group xml:lang="en"><title>Keywords</title>
<kwd>Autoimmunity</kwd>
<kwd>COPA syndrome</kwd>
<kwd>Interstitial lung disease</kwd>
<kwd>Arthritis</kwd>
<kwd>Pulmonary hemorrhage</kwd>
<kwd>Alveolitis</kwd>
</kwd-group>
<custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name>
<meta-value>© The Author(s) 2019</meta-value>
</custom-meta>
</custom-meta-group>
</article-meta>
</front>
</pmc>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Missouri (État)</li>
<li>État du Mississippi</li>
</region>
</list>
<tree><country name="États-Unis"><region name="Missouri (État)"><name sortKey="Patwardhan, Anjali" sort="Patwardhan, Anjali" uniqKey="Patwardhan A" first="Anjali" last="Patwardhan">Anjali Patwardhan</name>
</region>
<name sortKey="Spencer, Charles H" sort="Spencer, Charles H" uniqKey="Spencer C" first="Charles H." last="Spencer">Charles H. Spencer</name>
</country>
</tree>
</affiliations>
</record>
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