Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant
Silver-Russell syndrome (SRS, OMIM, 180860) is a rare genetic disorder with a wide spectrum of symptoms. The most common features are intrauterine growth retardation (IUGR), poor postnatal development, macrocephaly, triangular face, prominent forehead, body asymmetry, and feeding problems. The diagn...
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| Published in | Frontiers in endocrinology (Lausanne) Vol. 15; p. 1364234 |
|---|---|
| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
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Frontiers Media S.A
26.03.2024
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| ISSN | 1664-2392 1664-2392 |
| DOI | 10.3389/fendo.2024.1364234 |
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| Abstract | Silver-Russell syndrome (SRS, OMIM, 180860) is a rare genetic disorder with a wide spectrum of symptoms. The most common features are intrauterine growth retardation (IUGR), poor postnatal development, macrocephaly, triangular face, prominent forehead, body asymmetry, and feeding problems. The diagnosis of SRS is based on a combination of clinical features. Up to 60% of SRS patients have chromosome 7 or 11 abnormalities, and <1% show abnormalities in IGF2 signaling pathway genes (
IGF2
,
HMGA2
,
PLAG1
and
CDKN1C
). The underlying genetic cause remains unknown in about 40% of cases (idiopathic SRS). We report a novel
IGF2
variant c.[-6-2A>G] (NM_000612) in a child with severe IUGR and clinical features of SRS and confirm the utility of targeted exome sequencing in patients with negative results to common genetic analyses. In addition, we report that long-term growth hormone treatment improves height SDS in this patient. |
|---|---|
| AbstractList | Silver-Russell syndrome (SRS, OMIM, 180860) is a rare genetic disorder with a wide spectrum of symptoms. The most common features are intrauterine growth retardation (IUGR), poor postnatal development, macrocephaly, triangular face, prominent forehead, body asymmetry, and feeding problems. The diagnosis of SRS is based on a combination of clinical features. Up to 60% of SRS patients have chromosome 7 or 11 abnormalities, and <1% show abnormalities in IGF2 signaling pathway genes (
IGF2
,
HMGA2
,
PLAG1
and
CDKN1C
). The underlying genetic cause remains unknown in about 40% of cases (idiopathic SRS). We report a novel
IGF2
variant c.[-6-2A>G] (NM_000612) in a child with severe IUGR and clinical features of SRS and confirm the utility of targeted exome sequencing in patients with negative results to common genetic analyses. In addition, we report that long-term growth hormone treatment improves height SDS in this patient. Silver-Russell syndrome (SRS, OMIM, 180860) is a rare genetic disorder with a wide spectrum of symptoms. The most common features are intrauterine growth retardation (IUGR), poor postnatal development, macrocephaly, triangular face, prominent forehead, body asymmetry, and feeding problems. The diagnosis of SRS is based on a combination of clinical features. Up to 60% of SRS patients have chromosome 7 or 11 abnormalities, and <1% show abnormalities in IGF2 signaling pathway genes ( , , and ). The underlying genetic cause remains unknown in about 40% of cases (idiopathic SRS). We report a novel variant c.[-6-2A>G] (NM_000612) in a child with severe IUGR and clinical features of SRS and confirm the utility of targeted exome sequencing in patients with negative results to common genetic analyses. In addition, we report that long-term growth hormone treatment improves height SDS in this patient. Silver-Russell syndrome (SRS, OMIM, 180860) is a rare genetic disorder with a wide spectrum of symptoms. The most common features are intrauterine growth retardation (IUGR), poor postnatal development, macrocephaly, triangular face, prominent forehead, body asymmetry, and feeding problems. The diagnosis of SRS is based on a combination of clinical features. Up to 60% of SRS patients have chromosome 7 or 11 abnormalities, and <1% show abnormalities in IGF2 signaling pathway genes (IGF2, HMGA2, PLAG1 and CDKN1C). The underlying genetic cause remains unknown in about 40% of cases (idiopathic SRS). We report a novel IGF2 variant c.[-6-2A>G] (NM_000612) in a child with severe IUGR and clinical features of SRS and confirm the utility of targeted exome sequencing in patients with negative results to common genetic analyses. In addition, we report that long-term growth hormone treatment improves height SDS in this patient. Silver-Russell syndrome (SRS, OMIM, 180860) is a rare genetic disorder with a wide spectrum of symptoms. The most common features are intrauterine growth retardation (IUGR), poor postnatal development, macrocephaly, triangular face, prominent forehead, body asymmetry, and feeding problems. The diagnosis of SRS is based on a combination of clinical features. Up to 60% of SRS patients have chromosome 7 or 11 abnormalities, and <1% show abnormalities in IGF2 signaling pathway genes (IGF2, HMGA2, PLAG1 and CDKN1C). The underlying genetic cause remains unknown in about 40% of cases (idiopathic SRS). We report a novel IGF2 variant c.[-6-2A>G] (NM_000612) in a child with severe IUGR and clinical features of SRS and confirm the utility of targeted exome sequencing in patients with negative results to common genetic analyses. In addition, we report that long-term growth hormone treatment improves height SDS in this patient.Silver-Russell syndrome (SRS, OMIM, 180860) is a rare genetic disorder with a wide spectrum of symptoms. The most common features are intrauterine growth retardation (IUGR), poor postnatal development, macrocephaly, triangular face, prominent forehead, body asymmetry, and feeding problems. The diagnosis of SRS is based on a combination of clinical features. Up to 60% of SRS patients have chromosome 7 or 11 abnormalities, and <1% show abnormalities in IGF2 signaling pathway genes (IGF2, HMGA2, PLAG1 and CDKN1C). The underlying genetic cause remains unknown in about 40% of cases (idiopathic SRS). We report a novel IGF2 variant c.[-6-2A>G] (NM_000612) in a child with severe IUGR and clinical features of SRS and confirm the utility of targeted exome sequencing in patients with negative results to common genetic analyses. In addition, we report that long-term growth hormone treatment improves height SDS in this patient. |
| Author | Lepri, Francesca Romana Cappa, Marco Criscuolo, Sabrina Bottaro, Giorgia Novelli, Antonio Ventresca, Silvia Loche, Sandro |
| AuthorAffiliation | 3 Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital , Rome , Italy 4 Pediatric University Department, Bambino Gesù Children’s Hospital , Rome , Italy 2 Endocrinology and Diabetology Unit, Pediatric University Department, Bambino Gesù Children’s Hospital , Rome , Italy 1 Pediatric Section, University Hospital Arcispedale Sant’Anna, University of Ferrara , Ferrara , Italy 5 Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital , Rome , Italy 6 Research Area for Innovative Therapies in Endocrinopathies, Bambino Gesù Children’s Hospital, IRCCS , Rome , Italy |
| AuthorAffiliation_xml | – name: 4 Pediatric University Department, Bambino Gesù Children’s Hospital , Rome , Italy – name: 5 Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital , Rome , Italy – name: 6 Research Area for Innovative Therapies in Endocrinopathies, Bambino Gesù Children’s Hospital, IRCCS , Rome , Italy – name: 2 Endocrinology and Diabetology Unit, Pediatric University Department, Bambino Gesù Children’s Hospital , Rome , Italy – name: 1 Pediatric Section, University Hospital Arcispedale Sant’Anna, University of Ferrara , Ferrara , Italy – name: 3 Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital , Rome , Italy |
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| Cites_doi | 10.3389/fped.2022.969881 10.1038/nrendo.2016.138 10.1002/ajmg.a.62391 10.1056/NEJMoa1415227 10.1210/jc.2015-4273 10.1038/s41525-020-00140-1 10.1210/jc.2002-021172 10.1210/clinem/dgac694 10.1210/jc.2007-1897 10.1016/B978-0-323-29738-7.00024-1 10.1159/000091503 10.1002/humu.23253 10.1111/cen.14715 10.1210/endrev/bnad002 10.3389/fgene.2017.00105 10.1016/j.coemr.2020.03.007 10.1007/BF03344156 10.3389/fgene.2019.01161 10.1038/gim.2017.105 10.1186/s13023-021-01683-x 10.1002/ajmg.a.40502 10.1186/s13148-020-00865-x 10.1210/clinem/dgz034 |
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| Copyright | Copyright © 2024 Ventresca, Lepri, Criscuolo, Bottaro, Novelli, Loche and Cappa. Copyright © 2024 Ventresca, Lepri, Criscuolo, Bottaro, Novelli, Loche and Cappa 2024 Ventresca, Lepri, Criscuolo, Bottaro, Novelli, Loche and Cappa |
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| Keywords | GH therapy Silver-Russel syndrome growth retardation IGF2 variant children |
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| References | Meyer (B10) 2021; 16 Van Pareren (B16) 2003; 88 Masunaga (B4) 2020; 105 Yamoto (B5) 2017; 38 James (B13) 2020; 11 Xia (B11) 2019; 10 Cacciari (B18) 2006; 29 Cooke (B19) 2016 Gicquel (B1) 2006; 65 Juul (B22) 2023; 108 Hokken-Koelega (B21) 2023; 44 Abi Habib (B8) 2018; 20 Lokulo-Sodipe (B23) 2022; 97 Liu (B14) 2017; 8 Begemann (B3) 2006; 373 Brereton (B7) 2021; 185 Inoue (B9) 2020 Binder (B20) 2008; 93 Loid (B15) 2022; 4 Poulton (B12) 2018; 176 Wakeling (B6) 2017; 13 Argente (B2) 2020; 14 Smeets (B17) 2016; 101 |
| References_xml | – volume: 4 year: 2022 ident: B15 article-title: Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome publication-title: Front Pediatr doi: 10.3389/fped.2022.969881 – volume: 13 year: 2017 ident: B6 article-title: Diagnosis and management of Silver-Russell syndrome: first international consensus statement publication-title: Nat Rev Endocrinol doi: 10.1038/nrendo.2016.138 – volume: 185 year: 2021 ident: B7 article-title: Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement publication-title: Amer J Med Genet doi: 10.1002/ajmg.a.62391 – volume: 373 year: 2006 ident: B3 article-title: Paternally Inherited IGF2 mutation and growth restriction publication-title: N Engl J Med doi: 10.1056/NEJMoa1415227 – volume: 101 year: 2016 ident: B17 article-title: Long-term results of GH treatment in Silver-Russell Syndrome (SRS): do they benefit the same as non-SRS short-SGA publication-title: J Clin Endocrinol Metab doi: 10.1210/jc.2015-4273 – volume: 11 start-page: 5 year: 2020 ident: B13 article-title: Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses publication-title: NPJ Genom Med doi: 10.1038/s41525-020-00140-1 – volume: 88 year: 2003 ident: B16 article-title: Adult height after long-term, continuous growth hormone (GH) treatment in short children born small for gestational age: Results of a randomized, double-blind, dose-response GH trial publication-title: J Clin Endocrinol Metab doi: 10.1210/jc.2002-021172 – volume: 108 year: 2023 ident: B22 article-title: Early growth hormone initiation leads to favorable long-term growth outcomes in children born small for gestational age publication-title: J Clin Endocrinl Metab doi: 10.1210/clinem/dgac694 – volume: 93 year: 2008 ident: B20 article-title: The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration publication-title: J Clin Endocrinol Metab doi: 10.1210/jc.2007-1897 – start-page: 964 volume-title: Normal and aberrant growth in children. Williams Textbook of Endocrinology year: 2016 ident: B19 doi: 10.1016/B978-0-323-29738-7.00024-1 – volume: 65 start-page: 28 year: 2006 ident: B1 article-title: Hormonal regulation of fetal growth publication-title: Horm Res doi: 10.1159/000091503 – volume: 38 year: 2017 ident: B5 article-title: De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly publication-title: Hum Muut doi: 10.1002/humu.23253 – volume: 97 year: 2022 ident: B23 article-title: Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment publication-title: Clin Endocrinol doi: 10.1111/cen.14715 – volume: 44 year: 2023 ident: B21 article-title: Horikawa R et alInternational consensus guideline on small for gestational age: Etiology and management from infancy to early adulthood publication-title: Endocr Rev doi: 10.1210/endrev/bnad002 – volume: 8 year: 2017 ident: B14 article-title: De novo mutation of paternal IGF2 gene causing Silver-Russell syndrome in a sporadic patient publication-title: Front Genet doi: 10.3389/fgene.2017.00105 – volume: 14 start-page: 7 year: 2020 ident: B2 article-title: Genetic causes of growth disorders publication-title: Curr Opin Endocr Metab Res doi: 10.1016/j.coemr.2020.03.007 – volume: 29 year: 2006 ident: B18 article-title: Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr) publication-title: J Endocrinol Invest doi: 10.1007/BF03344156 – volume: 10 year: 2019 ident: B11 article-title: Rare de novo IGF2 variant on the paternal allele in a patient with Silver-Russell Syndrome publication-title: Front Genet doi: 10.3389/fgene.2019.01161 – volume: 20 year: 2018 ident: B8 article-title: Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction publication-title: Genet Med doi: 10.1038/gim.2017.105 – volume: 16 start-page: 42 year: 2021 ident: B10 article-title: One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome publication-title: Orphanet J Rare Dis doi: 10.1186/s13023-021-01683-x – volume: 176 year: 2018 ident: B12 article-title: Silver Russel syndrome in an aboriginal patient from Australia publication-title: Amer J Med Genet doi: 10.1002/ajmg.a.40502 – year: 2020 ident: B9 article-title: Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients publication-title: Clin Epigenet doi: 10.1186/s13148-020-00865-x – volume: 105 year: 2020 ident: B4 article-title: IGF2 mutations: Report of five cases, review of the literature, and comparison with H19/IGF2:IG-DMR epimutations publication-title: J Clin Endocrinol Metab doi: 10.1210/clinem/dgz034 |
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| SubjectTerms | Child children Endocrinology Female Fetal Growth Retardation - genetics GH therapy Growth Hormone - genetics growth retardation Human Growth Hormone - genetics Human Growth Hormone - therapeutic use Humans IGF2 variant Insulin-Like Growth Factor II - genetics Paternal Inheritance Phenotype Silver-Russel syndrome Silver-Russell Syndrome - diagnosis Silver-Russell Syndrome - drug therapy Silver-Russell Syndrome - genetics |
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| Title | Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant |
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