A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).
Identifieur interne : 002A63 ( PubMed/Corpus ); précédent : 002A62; suivant : 002A64A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).
Auteurs : Catherine M L. Roberts ; Janet E. Angus ; Ian H. Leach ; Elizabeth M. Mcdermott ; David A. Walker ; Jane C. RavenscroftSource :
- European journal of pediatrics [ 1432-1076 ] ; 2010.
English descriptors
- KwdEn :
- Child, DNA (genetics), DNA Mutational Analysis, Ectodermal Dysplasia (complications), Ectodermal Dysplasia (genetics), Ectodermal Dysplasia 1, Anhidrotic, Humans, I-kappa B Kinase (genetics), Immunologic Deficiency Syndromes (complications), Immunologic Deficiency Syndromes (genetics), Incontinentia Pigmenti (complications), Lymphedema (complications), Lymphedema (genetics), Male, Mutation, Osteoporosis (complications), Osteoporosis (genetics).
- MESH :
- chemical , genetics : DNA, I-kappa B Kinase.
- complications : Ectodermal Dysplasia, Immunologic Deficiency Syndromes, Incontinentia Pigmenti, Lymphedema, Osteoporosis.
- genetics : Ectodermal Dysplasia, Immunologic Deficiency Syndromes, Lymphedema, Osteoporosis.
- Child, DNA Mutational Analysis, Ectodermal Dysplasia 1, Anhidrotic, Humans, Male, Mutation.
Abstract
Genetic conditions are increasingly recognised as a cause of multisystem diseases in children. We report a 6-year-old boy with hypohidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis and lymphoedema, associated with a novel mutation in the NF-κβ essential modulator (NEMO) gene. He is the longest surviving of three reported boys with these clinical features. Hypohidrotic ectodermal dysplasia, a congenital disorder of teeth, hair and eccrine sweat glands is most commonly inherited as an X-linked recessive trait. Associated immunodeficiency (HED-ID) may give rise to serious infections in early life. Mutations in the NEMO gene give rise to a heterogeneous group of disorders, including the X-linked dominant disorder incontinentia pigmenti. This is characterised by typical skin changes leading to linear pigmentary change and variable associated features; in males, prenatal death usually occurs. Our patient, like one if the previous cases and all of their mothers, demonstrates features of incontinentia pigmenti.
DOI: 10.1007/s00431-010-1206-7
PubMed: 20499091
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pubmed:20499091Le document en format XML
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Mcdermott</name></author><author><name sortKey="Walker, David A" sort="Walker, David A" uniqKey="Walker D" first="David A" last="Walker">David A. Walker</name></author><author><name sortKey="Ravenscroft, Jane C" sort="Ravenscroft, Jane C" uniqKey="Ravenscroft J" first="Jane C" last="Ravenscroft">Jane C. 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Roberts</name><affiliation><nlm:affiliation>Department of Dermatology, Nottingham University Hospitals, Nottingham, UK. catherine.roberts@nuh.nhs.uk</nlm:affiliation></affiliation></author><author><name sortKey="Angus, Janet E" sort="Angus, Janet E" uniqKey="Angus J" first="Janet E" last="Angus">Janet E. Angus</name></author><author><name sortKey="Leach, Ian H" sort="Leach, Ian H" uniqKey="Leach I" first="Ian H" last="Leach">Ian H. Leach</name></author><author><name sortKey="Mcdermott, Elizabeth M" sort="Mcdermott, Elizabeth M" uniqKey="Mcdermott E" first="Elizabeth M" last="Mcdermott">Elizabeth M. Mcdermott</name></author><author><name sortKey="Walker, David A" sort="Walker, David A" uniqKey="Walker D" first="David A" last="Walker">David A. Walker</name></author><author><name sortKey="Ravenscroft, Jane C" sort="Ravenscroft, Jane C" uniqKey="Ravenscroft J" first="Jane C" last="Ravenscroft">Jane C. Ravenscroft</name></author></analytic><series><title level="j">European journal of pediatrics</title><idno type="eISSN">1432-1076</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term><term>DNA (genetics)</term><term>DNA Mutational Analysis</term><term>Ectodermal Dysplasia (complications)</term><term>Ectodermal Dysplasia (genetics)</term><term>Ectodermal Dysplasia 1, Anhidrotic</term><term>Humans</term><term>I-kappa B Kinase (genetics)</term><term>Immunologic Deficiency Syndromes (complications)</term><term>Immunologic Deficiency Syndromes (genetics)</term><term>Incontinentia Pigmenti (complications)</term><term>Lymphedema (complications)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Mutation</term><term>Osteoporosis (complications)</term><term>Osteoporosis (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA</term><term>I-kappa B Kinase</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Ectodermal Dysplasia</term><term>Immunologic Deficiency Syndromes</term><term>Incontinentia Pigmenti</term><term>Lymphedema</term><term>Osteoporosis</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ectodermal Dysplasia</term><term>Immunologic Deficiency Syndromes</term><term>Lymphedema</term><term>Osteoporosis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>DNA Mutational Analysis</term><term>Ectodermal Dysplasia 1, Anhidrotic</term><term>Humans</term><term>Male</term><term>Mutation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genetic conditions are increasingly recognised as a cause of multisystem diseases in children. We report a 6-year-old boy with hypohidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis and lymphoedema, associated with a novel mutation in the NF-κβ essential modulator (NEMO) gene. He is the longest surviving of three reported boys with these clinical features. Hypohidrotic ectodermal dysplasia, a congenital disorder of teeth, hair and eccrine sweat glands is most commonly inherited as an X-linked recessive trait. Associated immunodeficiency (HED-ID) may give rise to serious infections in early life. Mutations in the NEMO gene give rise to a heterogeneous group of disorders, including the X-linked dominant disorder incontinentia pigmenti. This is characterised by typical skin changes leading to linear pigmentary change and variable associated features; in males, prenatal death usually occurs. Our patient, like one if the previous cases and all of their mothers, demonstrates features of incontinentia pigmenti.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">20499091</PMID><DateCreated><Year>2010</Year><Month>09</Month><Day>22</Day></DateCreated><DateCompleted><Year>2011</Year><Month>02</Month><Day>23</Day></DateCompleted><DateRevised><Year>2011</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1432-1076</ISSN><JournalIssue CitedMedium="Internet"><Volume>169</Volume><Issue>11</Issue><PubDate><Year>2010</Year><Month>Nov</Month></PubDate></JournalIssue><Title>European journal of pediatrics</Title><ISOAbbreviation>Eur. J. Pediatr.</ISOAbbreviation></Journal><ArticleTitle>A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).</ArticleTitle><Pagination><MedlinePgn>1403-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1007/s00431-010-1206-7</ELocationID><Abstract><AbstractText>Genetic conditions are increasingly recognised as a cause of multisystem diseases in children. We report a 6-year-old boy with hypohidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis and lymphoedema, associated with a novel mutation in the NF-κβ essential modulator (NEMO) gene. He is the longest surviving of three reported boys with these clinical features. Hypohidrotic ectodermal dysplasia, a congenital disorder of teeth, hair and eccrine sweat glands is most commonly inherited as an X-linked recessive trait. Associated immunodeficiency (HED-ID) may give rise to serious infections in early life. Mutations in the NEMO gene give rise to a heterogeneous group of disorders, including the X-linked dominant disorder incontinentia pigmenti. This is characterised by typical skin changes leading to linear pigmentary change and variable associated features; in males, prenatal death usually occurs. Our patient, like one if the previous cases and all of their mothers, demonstrates features of incontinentia pigmenti.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Roberts</LastName><ForeName>Catherine M L</ForeName><Initials>CM</Initials><AffiliationInfo><Affiliation>Department of Dermatology, Nottingham University Hospitals, Nottingham, UK. catherine.roberts@nuh.nhs.uk</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Angus</LastName><ForeName>Janet E</ForeName><Initials>JE</Initials></Author><Author ValidYN="Y"><LastName>Leach</LastName><ForeName>Ian H</ForeName><Initials>IH</Initials></Author><Author ValidYN="Y"><LastName>McDermott</LastName><ForeName>Elizabeth M</ForeName><Initials>EM</Initials></Author><Author ValidYN="Y"><LastName>Walker</LastName><ForeName>David A</ForeName><Initials>DA</Initials></Author><Author ValidYN="Y"><LastName>Ravenscroft</LastName><ForeName>Jane C</ForeName><Initials>JC</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2010</Year><Month>05</Month><Day>21</Day></ArticleDate></Article><MedlineJournalInfo><Country>Germany</Country><MedlineTA>Eur J Pediatr</MedlineTA><NlmUniqueID>7603873</NlmUniqueID><ISSNLinking>0340-6199</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C491731">IKBKG protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>9007-49-2</RegistryNumber><NameOfSubstance UI="D004247">DNA</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="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004247" MajorTopicYN="N">DNA</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004476" MajorTopicYN="N">Ectodermal Dysplasia</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D053358" MajorTopicYN="N">Ectodermal Dysplasia 1, Anhidrotic</DescriptorName></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="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007184" MajorTopicYN="N">Incontinentia Pigmenti</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010024" MajorTopicYN="N">Osteoporosis</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2010</Year><Month>03</Month><Day>21</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2010</Year><Month>04</Month><Day>20</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>5</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>5</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2011</Year><Month>2</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">20499091</ArticleId><ArticleId IdType="doi">10.1007/s00431-010-1206-7</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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