Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.
Identifieur interne : 000567 ( Main/Exploration ); précédent : 000566; suivant : 000568Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.
Auteurs : Aisling M. O'Riordan [Irlande (pays)] ; Niamh Mcgrath [Irlande (pays)] ; Farhana Sharif [Irlande (pays)] ; Nuala P. Murphy [Irlande (pays)] ; Orla Franklin [Irlande (pays)] ; Sally Ann Lynch [Irlande (pays)] ; Michael J. O'Grady [Irlande (pays)]Source :
- European journal of pediatrics [ 1432-1076 ] ; 2017.
Descripteurs français
- KwdFr :
- Cardiopathies congénitales (génétique), Chromosomes humains de la paire 15 (génétique), Délétion de segment de chromosome, Facteur de croissance IGF-I (analyse), Femelle, Haploinsuffisance, Humains, Incapacités de développement (génétique), Mâle, Nouveau-né, Prématuré, Retard de croissance staturo-pondérale (étiologie), Trouble du spectre autistique (diagnostic), Troubles de la croissance (génétique), Valve aortique, Valvulopathies (génétique).
- MESH :
- analyse : Facteur de croissance IGF-I.
- diagnostic : Trouble du spectre autistique.
- génétique : Cardiopathies congénitales, Chromosomes humains de la paire 15, Incapacités de développement, Troubles de la croissance, Valvulopathies.
- étiologie : Retard de croissance staturo-pondérale.
- Délétion de segment de chromosome, Femelle, Haploinsuffisance, Humains, Mâle, Nouveau-né, Prématuré, Valve aortique.
English descriptors
- KwdEn :
- Aortic Valve, Autism Spectrum Disorder (diagnosis), Chromosome Deletion, Chromosomes, Human, Pair 15 (genetics), Developmental Disabilities (genetics), Failure to Thrive (etiology), Female, Growth Disorders (genetics), Haploinsufficiency, Heart Defects, Congenital (genetics), Heart Valve Diseases (genetics), Humans, Infant, Newborn, Infant, Premature, Insulin-Like Growth Factor I (analysis), Male.
- MESH :
- chemical , analysis : Insulin-Like Growth Factor I.
- diagnosis : Autism Spectrum Disorder.
- etiology : Failure to Thrive.
- genetics : Chromosomes, Human, Pair 15, Developmental Disabilities, Growth Disorders, Heart Defects, Congenital, Heart Valve Diseases.
- Aortic Valve, Chromosome Deletion, Female, Haploinsufficiency, Humans, Infant, Newborn, Infant, Premature, Male.
Abstract
Haploinsufficiency of the insulin-like growth factor-1 receptor (IGF1R) gene on chromosome 15q26.3 is associated with impaired prenatal and postnatal growth, developmental delay, dysmorphic features and skeletal abnormalities. Terminal deletions of chromosome 15q26 arising more proximally may also be associated with congenital heart disease, epilepsy, diaphragmatic hernia and renal anomalies. We report three additional cases of 15q26 terminal deletions with novel features which may further expand the spectrum of this rarely reported contiguous gene syndrome. Phenotypic features including neonatal lymphedema, aplasia cutis congenita and aortic root dilatation have not been reported previously. Similarly, laboratory features of insulin-like growth factor 1 (IGF-1) resistance are described, including markedly elevated IGF-1 of up to +4.7 SDS. In one patient, the elevated IGF-1 declined over time and this coincided with a period of spontaneous growth acceleration.
DOI: 10.1007/s00431-016-2802-y
PubMed: 27826649
Affiliations:
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O'Riordan</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics, Midland Regional Hospital, Mullingar, Co. Westmeath, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Paediatrics, Midland Regional Hospital, Mullingar, Co. Westmeath</wicri:regionArea><wicri:noRegion>Co. Westmeath</wicri:noRegion></affiliation></author><author><name sortKey="Mcgrath, Niamh" sort="Mcgrath, Niamh" uniqKey="Mcgrath N" first="Niamh" last="Mcgrath">Niamh Mcgrath</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics, Midland Regional Hospital, Mullingar, Co. Westmeath, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Paediatrics, Midland Regional Hospital, Mullingar, Co. Westmeath</wicri:regionArea><wicri:noRegion>Co. Westmeath</wicri:noRegion></affiliation></author><author><name sortKey="Sharif, Farhana" sort="Sharif, Farhana" uniqKey="Sharif F" first="Farhana" last="Sharif">Farhana Sharif</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics, Midland Regional Hospital, Mullingar, Co. Westmeath, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Paediatrics, Midland Regional Hospital, Mullingar, Co. Westmeath</wicri:regionArea><wicri:noRegion>Co. Westmeath</wicri:noRegion></affiliation></author><author><name sortKey="Murphy, Nuala P" sort="Murphy, Nuala P" uniqKey="Murphy N" first="Nuala P" last="Murphy">Nuala P. 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O'Grady</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics, Midland Regional Hospital, Mullingar, Co. Westmeath, Ireland. michaelogrady@physicians.ie.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Paediatrics, Midland Regional Hospital, Mullingar, Co. Westmeath</wicri:regionArea><wicri:noRegion>Co. Westmeath</wicri:noRegion></affiliation></author></analytic><series><title level="j">European journal of pediatrics</title><idno type="eISSN">1432-1076</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aortic Valve</term><term>Autism Spectrum Disorder (diagnosis)</term><term>Chromosome Deletion</term><term>Chromosomes, Human, Pair 15 (genetics)</term><term>Developmental Disabilities (genetics)</term><term>Failure to Thrive (etiology)</term><term>Female</term><term>Growth Disorders (genetics)</term><term>Haploinsufficiency</term><term>Heart Defects, Congenital (genetics)</term><term>Heart Valve Diseases (genetics)</term><term>Humans</term><term>Infant, Newborn</term><term>Infant, Premature</term><term>Insulin-Like Growth Factor I (analysis)</term><term>Male</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Cardiopathies congénitales (génétique)</term><term>Chromosomes humains de la paire 15 (génétique)</term><term>Délétion de segment de chromosome</term><term>Facteur de croissance IGF-I (analyse)</term><term>Femelle</term><term>Haploinsuffisance</term><term>Humains</term><term>Incapacités de développement (génétique)</term><term>Mâle</term><term>Nouveau-né</term><term>Prématuré</term><term>Retard de croissance staturo-pondérale (étiologie)</term><term>Trouble du spectre autistique (diagnostic)</term><term>Troubles de la croissance (génétique)</term><term>Valve aortique</term><term>Valvulopathies (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>Insulin-Like Growth Factor I</term></keywords><keywords scheme="MESH" qualifier="analyse" xml:lang="fr"><term>Facteur de croissance IGF-I</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Autism Spectrum Disorder</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Trouble du spectre autistique</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Failure to Thrive</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 15</term><term>Developmental Disabilities</term><term>Growth Disorders</term><term>Heart Defects, Congenital</term><term>Heart Valve Diseases</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Cardiopathies congénitales</term><term>Chromosomes humains de la paire 15</term><term>Incapacités de développement</term><term>Troubles de la croissance</term><term>Valvulopathies</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Retard de croissance staturo-pondérale</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aortic Valve</term><term>Chromosome Deletion</term><term>Female</term><term>Haploinsufficiency</term><term>Humans</term><term>Infant, Newborn</term><term>Infant, Premature</term><term>Male</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Délétion de segment de chromosome</term><term>Femelle</term><term>Haploinsuffisance</term><term>Humains</term><term>Mâle</term><term>Nouveau-né</term><term>Prématuré</term><term>Valve aortique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Haploinsufficiency of the insulin-like growth factor-1 receptor (IGF1R) gene on chromosome 15q26.3 is associated with impaired prenatal and postnatal growth, developmental delay, dysmorphic features and skeletal abnormalities. Terminal deletions of chromosome 15q26 arising more proximally may also be associated with congenital heart disease, epilepsy, diaphragmatic hernia and renal anomalies. We report three additional cases of 15q26 terminal deletions with novel features which may further expand the spectrum of this rarely reported contiguous gene syndrome. Phenotypic features including neonatal lymphedema, aplasia cutis congenita and aortic root dilatation have not been reported previously. Similarly, laboratory features of insulin-like growth factor 1 (IGF-1) resistance are described, including markedly elevated IGF-1 of up to +4.7 SDS. In one patient, the elevated IGF-1 declined over time and this coincided with a period of spontaneous growth acceleration.</div></front></TEI><affiliations><list><country><li>Irlande (pays)</li></country></list><tree><country name="Irlande (pays)"><noRegion><name sortKey="O Riordan, Aisling M" sort="O Riordan, Aisling M" uniqKey="O Riordan A" first="Aisling M" last="O'Riordan">Aisling M. O'Riordan</name></noRegion><name sortKey="Franklin, Orla" sort="Franklin, Orla" uniqKey="Franklin O" first="Orla" last="Franklin">Orla Franklin</name><name sortKey="Lynch, Sally Ann" sort="Lynch, Sally Ann" uniqKey="Lynch S" first="Sally Ann" last="Lynch">Sally Ann Lynch</name><name sortKey="Mcgrath, Niamh" sort="Mcgrath, Niamh" uniqKey="Mcgrath N" first="Niamh" last="Mcgrath">Niamh Mcgrath</name><name sortKey="Murphy, Nuala P" sort="Murphy, Nuala P" uniqKey="Murphy N" first="Nuala P" last="Murphy">Nuala P. Murphy</name><name sortKey="O Grady, Michael J" sort="O Grady, Michael J" uniqKey="O Grady M" first="Michael J" last="O'Grady">Michael J. O'Grady</name><name sortKey="Sharif, Farhana" sort="Sharif, Farhana" uniqKey="Sharif F" first="Farhana" last="Sharif">Farhana Sharif</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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