Mutations in GHR and IGF1R Genes as a Potential Reason for the Lack of Catch-Up Growth in SGA Children
The aim of this review was to describe all of the mutations in the growth hormone receptor ( ) and insulin-like growth factor-1 receptor ( ) genes that have been discovered so far, and their possible impact on final body height, as well as their relationship with catch-up growth in children born sma...
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| Veröffentlicht in: | Genes 2022-05, Vol.13 (5), p.856 |
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| creator | Stróżewska, Weronika Durda-Masny, Magdalena Szwed, Anita |
| description | The aim of this review was to describe all of the mutations in the growth hormone receptor (
) and insulin-like growth factor-1 receptor (
) genes that have been discovered so far, and their possible impact on final body height, as well as their relationship with catch-up growth in children born small for gestational age (SGA). Mutations in the
gene were found to cause a body height below -2 SD, from the mean for sex and age, whereas the mutations in the
gene were associated with low body height and intrauterine growth restriction (IUGR), and with being born SGA. After birth, when the child's growth is not restricted by the intrauterine environment, the infant may develop its developmental potential and experience catch-up growth, which makes it possible to catch up with peers born appropriate for gestational age (AGA). Despite this, catch-up growth does not apply to all, but only to about 85% of SGA children, and its mechanism is unknown. It is possible that SGA children who did not experience catch-up growth are carriers of mutations in the
and/or
genes. |
| doi_str_mv | 10.3390/genes13050856 |
| format | Article |
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) and insulin-like growth factor-1 receptor (
) genes that have been discovered so far, and their possible impact on final body height, as well as their relationship with catch-up growth in children born small for gestational age (SGA). Mutations in the
gene were found to cause a body height below -2 SD, from the mean for sex and age, whereas the mutations in the
gene were associated with low body height and intrauterine growth restriction (IUGR), and with being born SGA. After birth, when the child's growth is not restricted by the intrauterine environment, the infant may develop its developmental potential and experience catch-up growth, which makes it possible to catch up with peers born appropriate for gestational age (AGA). Despite this, catch-up growth does not apply to all, but only to about 85% of SGA children, and its mechanism is unknown. It is possible that SGA children who did not experience catch-up growth are carriers of mutations in the
and/or
genes.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes13050856</identifier><identifier>PMID: 35627241</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Age ; Body height ; Body Height - genetics ; Cardiovascular disease ; Child ; Children ; Female ; Fetal Growth Retardation - genetics ; Fetuses ; Genes ; Growth hormones ; Humans ; Hypothalamus ; Infant ; Infant, Newborn ; Infant, Small for Gestational Age ; Influence ; Insulin ; Insulin-like growth factor I ; Insulin-like growth factor I receptors ; Insulin-like growth factors ; Intrauterine exposure ; Kinases ; Mutation ; Pituitary gland ; Proteins ; Receptor, IGF Type 1 - genetics ; Receptors, Somatotropin - genetics ; Review ; Signal transduction ; Small for gestational age</subject><ispartof>Genes, 2022-05, Vol.13 (5), p.856</ispartof><rights>2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2022 by the authors. 2022</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c2606-e7e10fa237f1fd4b5d8b40d92448a195233acde5bacdea02323ef54c502cbbf3</citedby><cites>FETCH-LOGICAL-c2606-e7e10fa237f1fd4b5d8b40d92448a195233acde5bacdea02323ef54c502cbbf3</cites><orcidid>0000-0001-7516-5019 ; 0000-0002-5895-9754</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140854/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140854/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,724,777,781,882,27905,27906,53772,53774</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35627241$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Stróżewska, Weronika</creatorcontrib><creatorcontrib>Durda-Masny, Magdalena</creatorcontrib><creatorcontrib>Szwed, Anita</creatorcontrib><title>Mutations in GHR and IGF1R Genes as a Potential Reason for the Lack of Catch-Up Growth in SGA Children</title><title>Genes</title><addtitle>Genes (Basel)</addtitle><description>The aim of this review was to describe all of the mutations in the growth hormone receptor (
) and insulin-like growth factor-1 receptor (
) genes that have been discovered so far, and their possible impact on final body height, as well as their relationship with catch-up growth in children born small for gestational age (SGA). Mutations in the
gene were found to cause a body height below -2 SD, from the mean for sex and age, whereas the mutations in the
gene were associated with low body height and intrauterine growth restriction (IUGR), and with being born SGA. After birth, when the child's growth is not restricted by the intrauterine environment, the infant may develop its developmental potential and experience catch-up growth, which makes it possible to catch up with peers born appropriate for gestational age (AGA). Despite this, catch-up growth does not apply to all, but only to about 85% of SGA children, and its mechanism is unknown. It is possible that SGA children who did not experience catch-up growth are carriers of mutations in the
and/or
genes.</description><subject>Age</subject><subject>Body height</subject><subject>Body Height - genetics</subject><subject>Cardiovascular disease</subject><subject>Child</subject><subject>Children</subject><subject>Female</subject><subject>Fetal Growth Retardation - genetics</subject><subject>Fetuses</subject><subject>Genes</subject><subject>Growth hormones</subject><subject>Humans</subject><subject>Hypothalamus</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Infant, Small for Gestational Age</subject><subject>Influence</subject><subject>Insulin</subject><subject>Insulin-like growth factor I</subject><subject>Insulin-like growth factor I receptors</subject><subject>Insulin-like growth factors</subject><subject>Intrauterine exposure</subject><subject>Kinases</subject><subject>Mutation</subject><subject>Pituitary gland</subject><subject>Proteins</subject><subject>Receptor, IGF Type 1 - genetics</subject><subject>Receptors, Somatotropin - genetics</subject><subject>Review</subject><subject>Signal transduction</subject><subject>Small for gestational age</subject><issn>2073-4425</issn><issn>2073-4425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNpdkUtLxDAURoMoKurSrQTcuKnm3elGkEGrMKKM4zqkaWKrnWRMWsV_b8qoqCHkBnI43JsPgEOMTikt0NmTcSZiijiacLEBdgnKacYY4Zu_7jvgIMZnlBZDBCG-DXYoFyQnDO8Cezv0qm-9i7B1sLyeQ-VqeFNe4TksRztUacN73xvXt6qDc6Oid9D6APvGwJnSL9BbOFW9brLHFSyDf--bUfZQXsBp03Z1MG4fbFnVRXPwVffA4upyMb3OZnflzfRilmkikMhMbjCyitDcYluziteTiqG6IIxNFC44oVTp2vBqPBUilFBjOdMcEV1Vlu6B87V2NVRLU-vUc1CdXIV2qcKH9KqVf19c28gn_yYLzNIXsiQ4-RIE_zqY2MtlG7XpOuWMH6IkIsckFwWdJPT4H_rsh-DSdCOFsOCCikRla0oHH2Mw9qcZjOSYofyTYeKPfk_wQ38nRj8BUD-WVQ</recordid><startdate>20220511</startdate><enddate>20220511</enddate><creator>Stróżewska, Weronika</creator><creator>Durda-Masny, Magdalena</creator><creator>Szwed, Anita</creator><general>MDPI AG</general><general>MDPI</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>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-7516-5019</orcidid><orcidid>https://orcid.org/0000-0002-5895-9754</orcidid></search><sort><creationdate>20220511</creationdate><title>Mutations in GHR and IGF1R Genes as a Potential Reason for the Lack of Catch-Up Growth in SGA Children</title><author>Stróżewska, Weronika ; Durda-Masny, Magdalena ; Szwed, Anita</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2606-e7e10fa237f1fd4b5d8b40d92448a195233acde5bacdea02323ef54c502cbbf3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Age</topic><topic>Body height</topic><topic>Body Height - genetics</topic><topic>Cardiovascular disease</topic><topic>Child</topic><topic>Children</topic><topic>Female</topic><topic>Fetal Growth Retardation - genetics</topic><topic>Fetuses</topic><topic>Genes</topic><topic>Growth hormones</topic><topic>Humans</topic><topic>Hypothalamus</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Infant, Small for Gestational Age</topic><topic>Influence</topic><topic>Insulin</topic><topic>Insulin-like growth factor I</topic><topic>Insulin-like growth factor I receptors</topic><topic>Insulin-like growth factors</topic><topic>Intrauterine exposure</topic><topic>Kinases</topic><topic>Mutation</topic><topic>Pituitary gland</topic><topic>Proteins</topic><topic>Receptor, IGF Type 1 - genetics</topic><topic>Receptors, Somatotropin - genetics</topic><topic>Review</topic><topic>Signal transduction</topic><topic>Small for gestational age</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Stróżewska, Weronika</creatorcontrib><creatorcontrib>Durda-Masny, Magdalena</creatorcontrib><creatorcontrib>Szwed, Anita</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Stróżewska, Weronika</au><au>Durda-Masny, Magdalena</au><au>Szwed, Anita</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations in GHR and IGF1R Genes as a Potential Reason for the Lack of Catch-Up Growth in SGA Children</atitle><jtitle>Genes</jtitle><addtitle>Genes (Basel)</addtitle><date>2022-05-11</date><risdate>2022</risdate><volume>13</volume><issue>5</issue><spage>856</spage><pages>856-</pages><issn>2073-4425</issn><eissn>2073-4425</eissn><abstract>The aim of this review was to describe all of the mutations in the growth hormone receptor (
) and insulin-like growth factor-1 receptor (
) genes that have been discovered so far, and their possible impact on final body height, as well as their relationship with catch-up growth in children born small for gestational age (SGA). Mutations in the
gene were found to cause a body height below -2 SD, from the mean for sex and age, whereas the mutations in the
gene were associated with low body height and intrauterine growth restriction (IUGR), and with being born SGA. After birth, when the child's growth is not restricted by the intrauterine environment, the infant may develop its developmental potential and experience catch-up growth, which makes it possible to catch up with peers born appropriate for gestational age (AGA). Despite this, catch-up growth does not apply to all, but only to about 85% of SGA children, and its mechanism is unknown. It is possible that SGA children who did not experience catch-up growth are carriers of mutations in the
and/or
genes.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>35627241</pmid><doi>10.3390/genes13050856</doi><orcidid>https://orcid.org/0000-0001-7516-5019</orcidid><orcidid>https://orcid.org/0000-0002-5895-9754</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Age Body height Body Height - genetics Cardiovascular disease Child Children Female Fetal Growth Retardation - genetics Fetuses Genes Growth hormones Humans Hypothalamus Infant Infant, Newborn Infant, Small for Gestational Age Influence Insulin Insulin-like growth factor I Insulin-like growth factor I receptors Insulin-like growth factors Intrauterine exposure Kinases Mutation Pituitary gland Proteins Receptor, IGF Type 1 - genetics Receptors, Somatotropin - genetics Review Signal transduction Small for gestational age |
| title | Mutations in GHR and IGF1R Genes as a Potential Reason for the Lack of Catch-Up Growth in SGA Children |
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