Hypoglycaemia represents a clinically significant manifestation of PIK3CA‐ and CCND2‐associated segmental overgrowth
The PI3K‐AKT signalling cascade has a highly conserved role in a variety of processes including cell growth and glucose homoeostasis. Variants affecting this pathway can lead to one of several segmental overgrowth disorders. These conditions are genetically heterogeneous and require tailored, multid...
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| Veröffentlicht in: | Clinical genetics 2018-03, Vol.93 (3), p.687-692 |
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| creator | McDermott, J.H. Hickson, N. Banerjee, I. Murray, P.G. Ram, D. Metcalfe, K. Clayton‐Smith, J. Douzgou, S. |
| description | The PI3K‐AKT signalling cascade has a highly conserved role in a variety of processes including cell growth and glucose homoeostasis. Variants affecting this pathway can lead to one of several segmental overgrowth disorders. These conditions are genetically heterogeneous and require tailored, multidisciplinary involvement throughout life. Hypoglycaemia is common in other overgrowth syndromes but has been described only sporadically in association with PIK3CA and CCND2 variants. We report a cohort of 6 children with megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes who developed clinically significant hypoglycaemia. Based on our findings, we suggest that segmental overgrowth patients should be screened for low blood glucose levels during childhood and there should be early specialist endocrine review in any children who develop hypoglycaemia.
We report a cohort of 6 children with segmental overgrowth (MCAP and MPPH) who developed clinically significant hypoglycaemia. |
| doi_str_mv | 10.1111/cge.13145 |
| format | Article |
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We report a cohort of 6 children with segmental overgrowth (MCAP and MPPH) who developed clinically significant hypoglycaemia.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/cge.13145</identifier><identifier>PMID: 28941273</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>1-Phosphatidylinositol 3-kinase ; Adolescent ; AKT protein ; Alleles ; CCND2 ; Child ; Child, Preschool ; Children ; Class I Phosphatidylinositol 3-Kinases - genetics ; Class I Phosphatidylinositol 3-Kinases - metabolism ; Clinical significance ; Cyclin D2 - genetics ; Cyclin D2 - metabolism ; Female ; Genetic Association Studies - methods ; Genetic Predisposition to Disease ; Genetic Variation ; Genotype ; Glucose ; Humans ; Hydrocephalus ; hyperinsulinism ; hypoglycaemia ; Hypoglycemia ; Hypoglycemia - diagnosis ; Hypoglycemia - genetics ; Infant ; Male ; Megalencephaly ; overgrowth ; Phenotype ; Phosphatidylinositol 3-Kinases - genetics ; Phosphatidylinositol 3-Kinases - metabolism ; PIK3CA ; Polydactyly ; Polymicrogyria ; Proto-Oncogene Proteins c-akt - genetics ; Proto-Oncogene Proteins c-akt - metabolism ; Signal Transduction ; Young Adult</subject><ispartof>Clinical genetics, 2018-03, Vol.93 (3), p.687-692</ispartof><rights>2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd</rights><rights>2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.</rights><rights>2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4545-ad40c666c2c094e495ee2ea71b24701a36c3dd37ee126106a7e87c1c05d171bb3</citedby><cites>FETCH-LOGICAL-c4545-ad40c666c2c094e495ee2ea71b24701a36c3dd37ee126106a7e87c1c05d171bb3</cites><orcidid>0000-0002-5220-8837</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fcge.13145$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fcge.13145$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28941273$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>McDermott, J.H.</creatorcontrib><creatorcontrib>Hickson, N.</creatorcontrib><creatorcontrib>Banerjee, I.</creatorcontrib><creatorcontrib>Murray, P.G.</creatorcontrib><creatorcontrib>Ram, D.</creatorcontrib><creatorcontrib>Metcalfe, K.</creatorcontrib><creatorcontrib>Clayton‐Smith, J.</creatorcontrib><creatorcontrib>Douzgou, S.</creatorcontrib><title>Hypoglycaemia represents a clinically significant manifestation of PIK3CA‐ and CCND2‐associated segmental overgrowth</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>The PI3K‐AKT signalling cascade has a highly conserved role in a variety of processes including cell growth and glucose homoeostasis. Variants affecting this pathway can lead to one of several segmental overgrowth disorders. These conditions are genetically heterogeneous and require tailored, multidisciplinary involvement throughout life. Hypoglycaemia is common in other overgrowth syndromes but has been described only sporadically in association with PIK3CA and CCND2 variants. We report a cohort of 6 children with megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes who developed clinically significant hypoglycaemia. Based on our findings, we suggest that segmental overgrowth patients should be screened for low blood glucose levels during childhood and there should be early specialist endocrine review in any children who develop hypoglycaemia.
We report a cohort of 6 children with segmental overgrowth (MCAP and MPPH) who developed clinically significant hypoglycaemia.</description><subject>1-Phosphatidylinositol 3-kinase</subject><subject>Adolescent</subject><subject>AKT protein</subject><subject>Alleles</subject><subject>CCND2</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Children</subject><subject>Class I Phosphatidylinositol 3-Kinases - genetics</subject><subject>Class I Phosphatidylinositol 3-Kinases - metabolism</subject><subject>Clinical significance</subject><subject>Cyclin D2 - genetics</subject><subject>Cyclin D2 - metabolism</subject><subject>Female</subject><subject>Genetic Association Studies - methods</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Variation</subject><subject>Genotype</subject><subject>Glucose</subject><subject>Humans</subject><subject>Hydrocephalus</subject><subject>hyperinsulinism</subject><subject>hypoglycaemia</subject><subject>Hypoglycemia</subject><subject>Hypoglycemia - diagnosis</subject><subject>Hypoglycemia - genetics</subject><subject>Infant</subject><subject>Male</subject><subject>Megalencephaly</subject><subject>overgrowth</subject><subject>Phenotype</subject><subject>Phosphatidylinositol 3-Kinases - genetics</subject><subject>Phosphatidylinositol 3-Kinases - metabolism</subject><subject>PIK3CA</subject><subject>Polydactyly</subject><subject>Polymicrogyria</subject><subject>Proto-Oncogene Proteins c-akt - genetics</subject><subject>Proto-Oncogene Proteins c-akt - metabolism</subject><subject>Signal Transduction</subject><subject>Young Adult</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kc1u1DAURi0EokNhwQsgS2xgkdZ_ieNlFUpbtSosYG3dce4EV0482BlKdjwCz8iTYDqFBVK9uf6ko6Or-xHykrMjXt6xG_CIS67qR2TFpTEVY0w9JqsyTGV4Iw_Is5xvSpS6Nk_JgWiN4kLLFfl-vmzjEBYHOHqgCbcJM05zpkBd8JN3EMJCsx8mvylhmukI5Yt5htnHicYN_XhxKbuTXz9-Uph62nXX70QJkHN0HmbsacZhLE4INH7DNKR4O395Tp5sIGR8cT8Pyef3p5-68-rqw9lFd3JVOVWruoJeMdc0jROOGYXK1IgCQfO1UJpxkI2TfS81IhcNZw1obLXjjtU9L9BaHpI3e-82xa-7srYdfXYYAkwYd9lyo4TmotaqoK__Q2_iLk1lOysYa2WruGwL9XZPuRRzTrix2-RHSIvlzP6pw5Y67F0dhX11b9ytR-z_kX_vX4DjPXDrAy4Pm2x3drpX_gbDapXP</recordid><startdate>201803</startdate><enddate>201803</enddate><creator>McDermott, J.H.</creator><creator>Hickson, N.</creator><creator>Banerjee, I.</creator><creator>Murray, P.G.</creator><creator>Ram, D.</creator><creator>Metcalfe, K.</creator><creator>Clayton‐Smith, J.</creator><creator>Douzgou, S.</creator><general>Blackwell Publishing Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-5220-8837</orcidid></search><sort><creationdate>201803</creationdate><title>Hypoglycaemia represents a clinically significant manifestation of PIK3CA‐ and CCND2‐associated segmental overgrowth</title><author>McDermott, J.H. ; Hickson, N. ; Banerjee, I. ; Murray, P.G. ; Ram, D. ; Metcalfe, K. ; Clayton‐Smith, J. ; Douzgou, S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4545-ad40c666c2c094e495ee2ea71b24701a36c3dd37ee126106a7e87c1c05d171bb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>1-Phosphatidylinositol 3-kinase</topic><topic>Adolescent</topic><topic>AKT protein</topic><topic>Alleles</topic><topic>CCND2</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Children</topic><topic>Class I Phosphatidylinositol 3-Kinases - genetics</topic><topic>Class I Phosphatidylinositol 3-Kinases - metabolism</topic><topic>Clinical significance</topic><topic>Cyclin D2 - genetics</topic><topic>Cyclin D2 - metabolism</topic><topic>Female</topic><topic>Genetic Association Studies - methods</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Variation</topic><topic>Genotype</topic><topic>Glucose</topic><topic>Humans</topic><topic>Hydrocephalus</topic><topic>hyperinsulinism</topic><topic>hypoglycaemia</topic><topic>Hypoglycemia</topic><topic>Hypoglycemia - diagnosis</topic><topic>Hypoglycemia - genetics</topic><topic>Infant</topic><topic>Male</topic><topic>Megalencephaly</topic><topic>overgrowth</topic><topic>Phenotype</topic><topic>Phosphatidylinositol 3-Kinases - genetics</topic><topic>Phosphatidylinositol 3-Kinases - metabolism</topic><topic>PIK3CA</topic><topic>Polydactyly</topic><topic>Polymicrogyria</topic><topic>Proto-Oncogene Proteins c-akt - genetics</topic><topic>Proto-Oncogene Proteins c-akt - metabolism</topic><topic>Signal Transduction</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>McDermott, J.H.</creatorcontrib><creatorcontrib>Hickson, N.</creatorcontrib><creatorcontrib>Banerjee, I.</creatorcontrib><creatorcontrib>Murray, P.G.</creatorcontrib><creatorcontrib>Ram, D.</creatorcontrib><creatorcontrib>Metcalfe, K.</creatorcontrib><creatorcontrib>Clayton‐Smith, J.</creatorcontrib><creatorcontrib>Douzgou, S.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>McDermott, J.H.</au><au>Hickson, N.</au><au>Banerjee, I.</au><au>Murray, P.G.</au><au>Ram, D.</au><au>Metcalfe, K.</au><au>Clayton‐Smith, J.</au><au>Douzgou, S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hypoglycaemia represents a clinically significant manifestation of PIK3CA‐ and CCND2‐associated segmental overgrowth</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2018-03</date><risdate>2018</risdate><volume>93</volume><issue>3</issue><spage>687</spage><epage>692</epage><pages>687-692</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><abstract>The PI3K‐AKT signalling cascade has a highly conserved role in a variety of processes including cell growth and glucose homoeostasis. Variants affecting this pathway can lead to one of several segmental overgrowth disorders. These conditions are genetically heterogeneous and require tailored, multidisciplinary involvement throughout life. Hypoglycaemia is common in other overgrowth syndromes but has been described only sporadically in association with PIK3CA and CCND2 variants. We report a cohort of 6 children with megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes who developed clinically significant hypoglycaemia. Based on our findings, we suggest that segmental overgrowth patients should be screened for low blood glucose levels during childhood and there should be early specialist endocrine review in any children who develop hypoglycaemia.
We report a cohort of 6 children with segmental overgrowth (MCAP and MPPH) who developed clinically significant hypoglycaemia.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>28941273</pmid><doi>10.1111/cge.13145</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-5220-8837</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | Clinical genetics, 2018-03, Vol.93 (3), p.687-692 |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | 1-Phosphatidylinositol 3-kinase Adolescent AKT protein Alleles CCND2 Child Child, Preschool Children Class I Phosphatidylinositol 3-Kinases - genetics Class I Phosphatidylinositol 3-Kinases - metabolism Clinical significance Cyclin D2 - genetics Cyclin D2 - metabolism Female Genetic Association Studies - methods Genetic Predisposition to Disease Genetic Variation Genotype Glucose Humans Hydrocephalus hyperinsulinism hypoglycaemia Hypoglycemia Hypoglycemia - diagnosis Hypoglycemia - genetics Infant Male Megalencephaly overgrowth Phenotype Phosphatidylinositol 3-Kinases - genetics Phosphatidylinositol 3-Kinases - metabolism PIK3CA Polydactyly Polymicrogyria Proto-Oncogene Proteins c-akt - genetics Proto-Oncogene Proteins c-akt - metabolism Signal Transduction Young Adult |
| title | Hypoglycaemia represents a clinically significant manifestation of PIK3CA‐ and CCND2‐associated segmental overgrowth |
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