Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy.
Identifieur interne : 001573 ( PubMed/Checkpoint ); précédent : 001572; suivant : 001574Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy.
Auteurs : Ellyze Van Asbeck [États-Unis] ; Arivudainambi Ramalingam ; Chris Dvorak ; Tian-Jian Chen ; Eva MoravaSource :
- Clinical dysmorphology [ 1473-5717 ] ; 2014.
Descripteurs français
- KwdFr :
- Adulte, Chromosomes X humains (génétique), Duplication chromosomique, Dysplasie ectodermique (diagnostic), Dysplasie ectodermique (génétique), Déficits immunitaires (diagnostic), Déficits immunitaires (génétique), Femelle, Humains, Hybridation génomique comparative, Hémangiome (diagnostic), Hémangiome (génétique), I-kappa B Kinase (génétique), Malformations multiples (diagnostic), Malformations multiples (génétique), Mégalencéphalie (diagnostic), Mégalencéphalie (génétique), Neurinome (diagnostic), Neurinome (génétique), Phénotype, Polyneuropathies (diagnostic), Polyneuropathies (génétique).
- MESH :
- diagnostic : Dysplasie ectodermique, Déficits immunitaires, Hémangiome, Malformations multiples, Mégalencéphalie, Neurinome, Polyneuropathies.
- génétique : Chromosomes X humains, Dysplasie ectodermique, Déficits immunitaires, Hémangiome, I-kappa B Kinase, Malformations multiples, Mégalencéphalie, Neurinome, Polyneuropathies.
- Adulte, Duplication chromosomique, Femelle, Humains, Hybridation génomique comparative, Phénotype.
English descriptors
- KwdEn :
- Abnormalities, Multiple (diagnosis), Abnormalities, Multiple (genetics), Adult, Chromosome Duplication, Chromosomes, Human, X (genetics), Comparative Genomic Hybridization, Ectodermal Dysplasia (diagnosis), Ectodermal Dysplasia (genetics), Female, Hemangioma (diagnosis), Hemangioma (genetics), Humans, I-kappa B Kinase (genetics), Immunologic Deficiency Syndromes (diagnosis), Immunologic Deficiency Syndromes (genetics), Megalencephaly (diagnosis), Megalencephaly (genetics), Neurilemmoma (diagnosis), Neurilemmoma (genetics), Phenotype, Polyneuropathies (diagnosis), Polyneuropathies (genetics).
- MESH :
- chemical , genetics : I-kappa B Kinase.
- diagnosis : Abnormalities, Multiple, Ectodermal Dysplasia, Hemangioma, Immunologic Deficiency Syndromes, Megalencephaly, Neurilemmoma, Polyneuropathies.
- genetics : Abnormalities, Multiple, Chromosomes, Human, X, Ectodermal Dysplasia, Hemangioma, Immunologic Deficiency Syndromes, Megalencephaly, Neurilemmoma, Polyneuropathies.
- Adult, Chromosome Duplication, Comparative Genomic Hybridization, Female, Humans, Phenotype.
Abstract
Duplications on Xq28 are common, although quite variable in size, but usually include the MECP2 gene. Here, we present a patient with a unique, small, 167-kb duplication at Xq28, not including MECP2. The most important gene in the duplicated region was IKBKG, mutations in which can cause a variety of distinct syndromes. Our patient's symptoms overlapped with different IKBKG-associated phenotypes, including hypohidrotic ectodermal dysplasia, incontinentia pigmenti, immunodeficiency, recurrent isolated invasive pneumococcal disease and anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema. In addition, she also had peripheral neuropathy, gastroparesis and various benign tumors, but no intellectual disability. Mixed syndromal presentation in several patients with IKBKG defect implies that IKBKG-related phenotypes are more like a spectrum, rather than distinct syndromes. We also suggest our patient's multisystem phenotype to be a novel contiguous gene syndrome, in which the key features include immune deficiency, macrocephaly, skin abnormalities, gastroparesis, peripheral small-fiber neuropathy, and benign tumors.
DOI: 10.1097/MCD.0000000000000038
PubMed: 24721901
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:24721901Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy.</title><author><name sortKey="Van Asbeck, Ellyze" sort="Van Asbeck, Ellyze" uniqKey="Van Asbeck E" first="Ellyze" last="Van Asbeck">Ellyze Van Asbeck</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Tulane University Medical School, Hayward Genetics Center, New Orleans, Louisiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Tulane University Medical School, Hayward Genetics Center, New Orleans, Louisiana</wicri:regionArea><placeName><region type="state">Louisiane</region></placeName></affiliation></author><author><name sortKey="Ramalingam, Arivudainambi" sort="Ramalingam, Arivudainambi" uniqKey="Ramalingam A" first="Arivudainambi" last="Ramalingam">Arivudainambi Ramalingam</name></author><author><name sortKey="Dvorak, Chris" sort="Dvorak, Chris" uniqKey="Dvorak C" first="Chris" last="Dvorak">Chris Dvorak</name></author><author><name sortKey="Chen, Tian Jian" sort="Chen, Tian Jian" uniqKey="Chen T" first="Tian-Jian" last="Chen">Tian-Jian Chen</name></author><author><name sortKey="Morava, Eva" sort="Morava, Eva" uniqKey="Morava E" first="Eva" last="Morava">Eva Morava</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24721901</idno><idno type="pmid">24721901</idno><idno type="doi">10.1097/MCD.0000000000000038</idno><idno type="wicri:Area/PubMed/Corpus">001556</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001556</idno><idno type="wicri:Area/PubMed/Curation">001556</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001556</idno><idno type="wicri:Area/PubMed/Checkpoint">001556</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001556</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy.</title><author><name sortKey="Van Asbeck, Ellyze" sort="Van Asbeck, Ellyze" uniqKey="Van Asbeck E" first="Ellyze" last="Van Asbeck">Ellyze Van Asbeck</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Tulane University Medical School, Hayward Genetics Center, New Orleans, Louisiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Tulane University Medical School, Hayward Genetics Center, New Orleans, Louisiana</wicri:regionArea><placeName><region type="state">Louisiane</region></placeName></affiliation></author><author><name sortKey="Ramalingam, Arivudainambi" sort="Ramalingam, Arivudainambi" uniqKey="Ramalingam A" first="Arivudainambi" last="Ramalingam">Arivudainambi Ramalingam</name></author><author><name sortKey="Dvorak, Chris" sort="Dvorak, Chris" uniqKey="Dvorak C" first="Chris" last="Dvorak">Chris Dvorak</name></author><author><name sortKey="Chen, Tian Jian" sort="Chen, Tian Jian" uniqKey="Chen T" first="Tian-Jian" last="Chen">Tian-Jian Chen</name></author><author><name sortKey="Morava, Eva" sort="Morava, Eva" uniqKey="Morava E" first="Eva" last="Morava">Eva Morava</name></author></analytic><series><title level="j">Clinical dysmorphology</title><idno type="eISSN">1473-5717</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (diagnosis)</term><term>Abnormalities, Multiple (genetics)</term><term>Adult</term><term>Chromosome Duplication</term><term>Chromosomes, Human, X (genetics)</term><term>Comparative Genomic Hybridization</term><term>Ectodermal Dysplasia (diagnosis)</term><term>Ectodermal Dysplasia (genetics)</term><term>Female</term><term>Hemangioma (diagnosis)</term><term>Hemangioma (genetics)</term><term>Humans</term><term>I-kappa B Kinase (genetics)</term><term>Immunologic Deficiency Syndromes (diagnosis)</term><term>Immunologic Deficiency Syndromes (genetics)</term><term>Megalencephaly (diagnosis)</term><term>Megalencephaly (genetics)</term><term>Neurilemmoma (diagnosis)</term><term>Neurilemmoma (genetics)</term><term>Phenotype</term><term>Polyneuropathies (diagnosis)</term><term>Polyneuropathies (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Chromosomes X humains (génétique)</term><term>Duplication chromosomique</term><term>Dysplasie ectodermique (diagnostic)</term><term>Dysplasie ectodermique (génétique)</term><term>Déficits immunitaires (diagnostic)</term><term>Déficits immunitaires (génétique)</term><term>Femelle</term><term>Humains</term><term>Hybridation génomique comparative</term><term>Hémangiome (diagnostic)</term><term>Hémangiome (génétique)</term><term>I-kappa B Kinase (génétique)</term><term>Malformations multiples (diagnostic)</term><term>Malformations multiples (génétique)</term><term>Mégalencéphalie (diagnostic)</term><term>Mégalencéphalie (génétique)</term><term>Neurinome (diagnostic)</term><term>Neurinome (génétique)</term><term>Phénotype</term><term>Polyneuropathies (diagnostic)</term><term>Polyneuropathies (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>I-kappa B Kinase</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Abnormalities, Multiple</term><term>Ectodermal Dysplasia</term><term>Hemangioma</term><term>Immunologic Deficiency Syndromes</term><term>Megalencephaly</term><term>Neurilemmoma</term><term>Polyneuropathies</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Dysplasie ectodermique</term><term>Déficits immunitaires</term><term>Hémangiome</term><term>Malformations multiples</term><term>Mégalencéphalie</term><term>Neurinome</term><term>Polyneuropathies</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Chromosomes, Human, X</term><term>Ectodermal Dysplasia</term><term>Hemangioma</term><term>Immunologic Deficiency Syndromes</term><term>Megalencephaly</term><term>Neurilemmoma</term><term>Polyneuropathies</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosomes X humains</term><term>Dysplasie ectodermique</term><term>Déficits immunitaires</term><term>Hémangiome</term><term>I-kappa B Kinase</term><term>Malformations multiples</term><term>Mégalencéphalie</term><term>Neurinome</term><term>Polyneuropathies</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Chromosome Duplication</term><term>Comparative Genomic Hybridization</term><term>Female</term><term>Humans</term><term>Phenotype</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Duplication chromosomique</term><term>Femelle</term><term>Humains</term><term>Hybridation génomique comparative</term><term>Phénotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Duplications on Xq28 are common, although quite variable in size, but usually include the MECP2 gene. Here, we present a patient with a unique, small, 167-kb duplication at Xq28, not including MECP2. The most important gene in the duplicated region was IKBKG, mutations in which can cause a variety of distinct syndromes. Our patient's symptoms overlapped with different IKBKG-associated phenotypes, including hypohidrotic ectodermal dysplasia, incontinentia pigmenti, immunodeficiency, recurrent isolated invasive pneumococcal disease and anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema. In addition, she also had peripheral neuropathy, gastroparesis and various benign tumors, but no intellectual disability. Mixed syndromal presentation in several patients with IKBKG defect implies that IKBKG-related phenotypes are more like a spectrum, rather than distinct syndromes. We also suggest our patient's multisystem phenotype to be a novel contiguous gene syndrome, in which the key features include immune deficiency, macrocephaly, skin abnormalities, gastroparesis, peripheral small-fiber neuropathy, and benign tumors.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24721901</PMID><DateCreated><Year>2014</Year><Month>06</Month><Day>02</Day></DateCreated><DateCompleted><Year>2015</Year><Month>01</Month><Day>13</Day></DateCompleted><DateRevised><Year>2014</Year><Month>06</Month><Day>02</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1473-5717</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>3</Issue><PubDate><Year>2014</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Clinical dysmorphology</Title><ISOAbbreviation>Clin. Dysmorphol.</ISOAbbreviation></Journal><ArticleTitle>Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy.</ArticleTitle><Pagination><MedlinePgn>77-82</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1097/MCD.0000000000000038</ELocationID><Abstract><AbstractText>Duplications on Xq28 are common, although quite variable in size, but usually include the MECP2 gene. Here, we present a patient with a unique, small, 167-kb duplication at Xq28, not including MECP2. The most important gene in the duplicated region was IKBKG, mutations in which can cause a variety of distinct syndromes. Our patient's symptoms overlapped with different IKBKG-associated phenotypes, including hypohidrotic ectodermal dysplasia, incontinentia pigmenti, immunodeficiency, recurrent isolated invasive pneumococcal disease and anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema. In addition, she also had peripheral neuropathy, gastroparesis and various benign tumors, but no intellectual disability. Mixed syndromal presentation in several patients with IKBKG defect implies that IKBKG-related phenotypes are more like a spectrum, rather than distinct syndromes. We also suggest our patient's multisystem phenotype to be a novel contiguous gene syndrome, in which the key features include immune deficiency, macrocephaly, skin abnormalities, gastroparesis, peripheral small-fiber neuropathy, and benign tumors.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>van Asbeck</LastName><ForeName>Ellyze</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Tulane University Medical School, Hayward Genetics Center, New Orleans, Louisiana, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ramalingam</LastName><ForeName>Arivudainambi</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Dvorak</LastName><ForeName>Chris</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Chen</LastName><ForeName>Tian-Jian</ForeName><Initials>TJ</Initials></Author><Author ValidYN="Y"><LastName>Morava</LastName><ForeName>Eva</ForeName><Initials>E</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Clin Dysmorphol</MedlineTA><NlmUniqueID>9207893</NlmUniqueID><ISSNLinking>0962-8827</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C491731">IKBKG protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.10</RegistryNumber><NameOfSubstance UI="D051550">I-kappa B Kinase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000015" MajorTopicYN="N">Abnormalities, Multiple</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D058674" MajorTopicYN="Y">Chromosome Duplication</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D041321" MajorTopicYN="N">Chromosomes, Human, X</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D055028" MajorTopicYN="N">Comparative Genomic Hybridization</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004476" MajorTopicYN="N">Ectodermal Dysplasia</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006391" MajorTopicYN="N">Hemangioma</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051550" MajorTopicYN="N">I-kappa B Kinase</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007153" MajorTopicYN="N">Immunologic Deficiency Syndromes</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D058627" MajorTopicYN="N">Megalencephaly</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009442" MajorTopicYN="N">Neurilemmoma</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011115" MajorTopicYN="N">Polyneuropathies</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>4</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>4</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>1</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">24721901</ArticleId><ArticleId IdType="doi">10.1097/MCD.0000000000000038</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country><region><li>Louisiane</li></region></list><tree><noCountry><name sortKey="Chen, Tian Jian" sort="Chen, Tian Jian" uniqKey="Chen T" first="Tian-Jian" last="Chen">Tian-Jian Chen</name><name sortKey="Dvorak, Chris" sort="Dvorak, Chris" uniqKey="Dvorak C" first="Chris" last="Dvorak">Chris Dvorak</name><name sortKey="Morava, Eva" sort="Morava, Eva" uniqKey="Morava E" first="Eva" last="Morava">Eva Morava</name><name sortKey="Ramalingam, Arivudainambi" sort="Ramalingam, Arivudainambi" uniqKey="Ramalingam A" first="Arivudainambi" last="Ramalingam">Arivudainambi Ramalingam</name></noCountry><country name="États-Unis"><region name="Louisiane"><name sortKey="Van Asbeck, Ellyze" sort="Van Asbeck, Ellyze" uniqKey="Van Asbeck E" first="Ellyze" last="Van Asbeck">Ellyze Van Asbeck</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/PubMed/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001573 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd -nk 001573 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= PubMed
|étape= Checkpoint
|type= RBID
|clé= pubmed:24721901
|texte= Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i -Sk "pubmed:24721901" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |