An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth Failure
In children with genetic syndromes, short stature is frequently a characteristic feature that, when associated with other specific manifestations, significantly aids in clinical diagnosis. In this report, an atypical case of Noonan syndrome (NS) in a 5.5-year-old child with mesomelic short stature i...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2018-09-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fendo.2018.00557/full |
| _version_ | 1828751141752537088 |
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| author | Emanuela Savarese Emanuela Savarese Benedetta Di Felice Benedetta Di Felice Francesco Miconi Francesco Miconi Gabriele Cabiati Federica Celi Francesco Crescenzi Nicola Principi Susanna Esposito |
| author_facet | Emanuela Savarese Emanuela Savarese Benedetta Di Felice Benedetta Di Felice Francesco Miconi Francesco Miconi Gabriele Cabiati Federica Celi Francesco Crescenzi Nicola Principi Susanna Esposito |
| author_sort | Emanuela Savarese |
| collection | DOAJ |
| description | In children with genetic syndromes, short stature is frequently a characteristic feature that, when associated with other specific manifestations, significantly aids in clinical diagnosis. In this report, an atypical case of Noonan syndrome (NS) in a 5.5-year-old child with mesomelic short stature is described. Genetic tests revealed two different mutations in this child. As expected in an NS case, a mutation in PTPN11 gene related to the RAS/MAPK signal transduction pathway was identified. Moreover, a mutation in the SHOX gene that was able to cause disproportionate short stature was detected. A clinical picture of NS with mesomelic short stature makes the diagnosis even more difficult as haploinsufficiency and complete loss of function of SHOX gene are associated with the typical differentiation and proliferation of chondrocytes, leading to mesomelic appearance. This case exemplifies the difficulties that can be encountered in achieving proper diagnoses for children with syndromic diseases and highlights the role of genetic tests in identifying final diagnoses in these patients |
| first_indexed | 2024-12-10T20:49:05Z |
| format | Article |
| id | doaj.art-6515824af6af420bbc46912f381c27f8 |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-12-10T20:49:05Z |
| publishDate | 2018-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-6515824af6af420bbc46912f381c27f82022-12-22T01:34:09ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922018-09-01910.3389/fendo.2018.00557378158An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth FailureEmanuela Savarese0Emanuela Savarese1Benedetta Di Felice2Benedetta Di Felice3Francesco Miconi4Francesco Miconi5Gabriele Cabiati6Federica Celi7Francesco Crescenzi8Nicola Principi9Susanna Esposito10Pediatric Section, Università degli Studi di Perugia, Perugia, ItalyPaediatric Clinic, Azienda Ospedaliera di Terni, Terni, ItalyPediatric Section, Università degli Studi di Perugia, Perugia, ItalyPaediatric Clinic, Azienda Ospedaliera di Terni, Terni, ItalyPediatric Section, Università degli Studi di Perugia, Perugia, ItalyPaediatric Clinic, Azienda Ospedaliera di Terni, Terni, ItalyPaediatric Clinic, Azienda Ospedaliera di Terni, Terni, ItalyPaediatric Clinic, Azienda Ospedaliera di Terni, Terni, ItalyPaediatric Clinic, Azienda Ospedaliera di Terni, Terni, ItalyUniversità degli Studi di Milano, Milan, ItalyDepartment of Surgical and Biomedical Sciences, Paediatric Clinic, Università degli Studi di Perugia, Perugia, ItalyIn children with genetic syndromes, short stature is frequently a characteristic feature that, when associated with other specific manifestations, significantly aids in clinical diagnosis. In this report, an atypical case of Noonan syndrome (NS) in a 5.5-year-old child with mesomelic short stature is described. Genetic tests revealed two different mutations in this child. As expected in an NS case, a mutation in PTPN11 gene related to the RAS/MAPK signal transduction pathway was identified. Moreover, a mutation in the SHOX gene that was able to cause disproportionate short stature was detected. A clinical picture of NS with mesomelic short stature makes the diagnosis even more difficult as haploinsufficiency and complete loss of function of SHOX gene are associated with the typical differentiation and proliferation of chondrocytes, leading to mesomelic appearance. This case exemplifies the difficulties that can be encountered in achieving proper diagnoses for children with syndromic diseases and highlights the role of genetic tests in identifying final diagnoses in these patientshttps://www.frontiersin.org/article/10.3389/fendo.2018.00557/fullfailure to thrivegrowth hormoneNoonan syndromeSHOX geneshort stature |
| spellingShingle | Emanuela Savarese Emanuela Savarese Benedetta Di Felice Benedetta Di Felice Francesco Miconi Francesco Miconi Gabriele Cabiati Federica Celi Francesco Crescenzi Nicola Principi Susanna Esposito An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth Failure Frontiers in Endocrinology failure to thrive growth hormone Noonan syndrome SHOX gene short stature |
| title | An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth Failure |
| title_full | An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth Failure |
| title_fullStr | An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth Failure |
| title_full_unstemmed | An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth Failure |
| title_short | An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth Failure |
| title_sort | association of ptpn11 and shox mutations in a male presenting with syndromic growth failure |
| topic | failure to thrive growth hormone Noonan syndrome SHOX gene short stature |
| url | https://www.frontiersin.org/article/10.3389/fendo.2018.00557/full |
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