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...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2024-03-01
|
| Series: | Frontiers in Endocrinology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2024.1364234/full |
| _version_ | 1797244814215872512 |
|---|---|
| author | Silvia Ventresca Silvia Ventresca Francesca Romana Lepri Sabrina Criscuolo Sabrina Criscuolo Giorgia Bottaro Antonio Novelli Sandro Loche Marco Cappa |
| author_facet | Silvia Ventresca Silvia Ventresca Francesca Romana Lepri Sabrina Criscuolo Sabrina Criscuolo Giorgia Bottaro Antonio Novelli Sandro Loche Marco Cappa |
| author_sort | Silvia Ventresca |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-24T19:16:59Z |
| format | Article |
| id | doaj.art-fe77b3818f0d4050af2e8cc70eb4b504 |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-04-24T19:16:59Z |
| publishDate | 2024-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-fe77b3818f0d4050af2e8cc70eb4b5042024-03-26T04:59:00ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922024-03-011510.3389/fendo.2024.13642341364234Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variantSilvia Ventresca0Silvia Ventresca1Francesca Romana Lepri2Sabrina Criscuolo3Sabrina Criscuolo4Giorgia Bottaro5Antonio Novelli6Sandro Loche7Marco Cappa8Pediatric Section, University Hospital Arcispedale Sant’Anna, University of Ferrara, Ferrara, ItalyEndocrinology and Diabetology Unit, Pediatric University Department, Bambino Gesù Children’s Hospital, Rome, ItalyLaboratory of Medical Genetics, Bambino Gesù Children’s Hospital, Rome, ItalyEndocrinology and Diabetology Unit, Pediatric University Department, Bambino Gesù Children’s Hospital, Rome, ItalyPediatric University Department, Bambino Gesù Children’s Hospital, Rome, ItalyEndocrinology and Diabetology Unit, Pediatric University Department, Bambino Gesù Children’s Hospital, Rome, ItalyLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, Rome, ItalyResearch Area for Innovative Therapies in Endocrinopathies, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyResearch Area for Innovative Therapies in Endocrinopathies, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalySilver-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.https://www.frontiersin.org/articles/10.3389/fendo.2024.1364234/fullIGF2 variantSilver-Russel syndromechildrengrowth retardationGH therapy |
| spellingShingle | Silvia Ventresca Silvia Ventresca Francesca Romana Lepri Sabrina Criscuolo Sabrina Criscuolo Giorgia Bottaro Antonio Novelli Sandro Loche Marco Cappa 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 Frontiers in Endocrinology IGF2 variant Silver-Russel syndrome children growth retardation GH therapy |
| 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | IGF2 variant Silver-Russel syndrome children growth retardation GH therapy |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2024.1364234/full |
| work_keys_str_mv | AT silviaventresca casereportlongtermresponsetogrowthhormoneinachildwithsilverrussellsyndromelikephenotypeduetoanovelpaternallyinheritedigf2variant AT silviaventresca casereportlongtermresponsetogrowthhormoneinachildwithsilverrussellsyndromelikephenotypeduetoanovelpaternallyinheritedigf2variant AT francescaromanalepri casereportlongtermresponsetogrowthhormoneinachildwithsilverrussellsyndromelikephenotypeduetoanovelpaternallyinheritedigf2variant AT sabrinacriscuolo casereportlongtermresponsetogrowthhormoneinachildwithsilverrussellsyndromelikephenotypeduetoanovelpaternallyinheritedigf2variant AT sabrinacriscuolo casereportlongtermresponsetogrowthhormoneinachildwithsilverrussellsyndromelikephenotypeduetoanovelpaternallyinheritedigf2variant AT giorgiabottaro casereportlongtermresponsetogrowthhormoneinachildwithsilverrussellsyndromelikephenotypeduetoanovelpaternallyinheritedigf2variant AT antonionovelli casereportlongtermresponsetogrowthhormoneinachildwithsilverrussellsyndromelikephenotypeduetoanovelpaternallyinheritedigf2variant AT sandroloche casereportlongtermresponsetogrowthhormoneinachildwithsilverrussellsyndromelikephenotypeduetoanovelpaternallyinheritedigf2variant AT marcocappa casereportlongtermresponsetogrowthhormoneinachildwithsilverrussellsyndromelikephenotypeduetoanovelpaternallyinheritedigf2variant |