Cargando…
A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism
INTRODUCTION: Schaaf-Yang syndrome (SYS) is caused by truncating point mutations of the paternal allele of MAGEL2, an imprinted gene located in the critical region of Prader-Willi syndrome (PWS). These patients present a phenotype with neurodevelopmental delay, hypotonia, joint contractures, and a p...
Autores principales: | , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Kowsar
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176277/ https://www.ncbi.nlm.nih.gov/pubmed/30323850 http://dx.doi.org/10.5812/ijem.67329 |
_version_ | 1783361668177199104 |
---|---|
author | D. Hidalgo-Santos, Antonio del Carmen DeMingo-Alemany, Maria Moreno-Macián, Francisca Roselló, Mónica Orellana, Carmen Martínez, Francisco Caro-Llopis, Alfonso León-Cariñena, Sara Tomás-Vila, Miguel |
author_facet | D. Hidalgo-Santos, Antonio del Carmen DeMingo-Alemany, Maria Moreno-Macián, Francisca Roselló, Mónica Orellana, Carmen Martínez, Francisco Caro-Llopis, Alfonso León-Cariñena, Sara Tomás-Vila, Miguel |
author_sort | D. Hidalgo-Santos, Antonio |
collection | PubMed |
description | INTRODUCTION: Schaaf-Yang syndrome (SYS) is caused by truncating point mutations of the paternal allele of MAGEL2, an imprinted gene located in the critical region of Prader-Willi syndrome (PWS). These patients present a phenotype with neurodevelopmental delay, hypotonia, joint contractures, and a particularly high prevalence of autism (up to 75% in affected individuals). The loss of function of MAGEL2 is suggested to contribute to endocrine hypothalamic dysfunction in individuals with PWS. CASE PRESENTATION: The current study presented the case of a patient with SYS and a novel de novo truncating mutation of MAGEL2 and phenotypic characteristics typical of this Prader-Willi-like syndrome and also including partial hypopituitarism, hypothyroidism, growth hormone deficiency, and hyperprolactinemia. CONCLUSIONS: The clinical and molecular similarities between SYS and PWS suggested the need for a thorough endocrinological follow-up to improve the prognosis and long-term quality of life for patients with SYS. |
format | Online Article Text |
id | pubmed-6176277 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Kowsar |
record_format | MEDLINE/PubMed |
spelling | pubmed-61762772018-10-15 A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism D. Hidalgo-Santos, Antonio del Carmen DeMingo-Alemany, Maria Moreno-Macián, Francisca Roselló, Mónica Orellana, Carmen Martínez, Francisco Caro-Llopis, Alfonso León-Cariñena, Sara Tomás-Vila, Miguel Int J Endocrinol Metab Case Report INTRODUCTION: Schaaf-Yang syndrome (SYS) is caused by truncating point mutations of the paternal allele of MAGEL2, an imprinted gene located in the critical region of Prader-Willi syndrome (PWS). These patients present a phenotype with neurodevelopmental delay, hypotonia, joint contractures, and a particularly high prevalence of autism (up to 75% in affected individuals). The loss of function of MAGEL2 is suggested to contribute to endocrine hypothalamic dysfunction in individuals with PWS. CASE PRESENTATION: The current study presented the case of a patient with SYS and a novel de novo truncating mutation of MAGEL2 and phenotypic characteristics typical of this Prader-Willi-like syndrome and also including partial hypopituitarism, hypothyroidism, growth hormone deficiency, and hyperprolactinemia. CONCLUSIONS: The clinical and molecular similarities between SYS and PWS suggested the need for a thorough endocrinological follow-up to improve the prognosis and long-term quality of life for patients with SYS. Kowsar 2018-07-01 /pmc/articles/PMC6176277/ /pubmed/30323850 http://dx.doi.org/10.5812/ijem.67329 Text en Copyright © 2018, International Journal of Endocrinology and Metabolism http://creativecommons.org/licenses/by-nc/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited |
spellingShingle | Case Report D. Hidalgo-Santos, Antonio del Carmen DeMingo-Alemany, Maria Moreno-Macián, Francisca Roselló, Mónica Orellana, Carmen Martínez, Francisco Caro-Llopis, Alfonso León-Cariñena, Sara Tomás-Vila, Miguel A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism |
title | A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism |
title_full | A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism |
title_fullStr | A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism |
title_full_unstemmed | A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism |
title_short | A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism |
title_sort | novel mutation of magel2 in a patient with schaaf-yang syndrome and hypopituitarism |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176277/ https://www.ncbi.nlm.nih.gov/pubmed/30323850 http://dx.doi.org/10.5812/ijem.67329 |
work_keys_str_mv | AT dhidalgosantosantonio anovelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT delcarmendemingoalemanymaria anovelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT morenomacianfrancisca anovelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT rosellomonica anovelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT orellanacarmen anovelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT martinezfrancisco anovelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT carollopisalfonso anovelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT leoncarinenasara anovelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT tomasvilamiguel anovelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT dhidalgosantosantonio novelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT delcarmendemingoalemanymaria novelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT morenomacianfrancisca novelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT rosellomonica novelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT orellanacarmen novelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT martinezfrancisco novelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT carollopisalfonso novelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT leoncarinenasara novelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism AT tomasvilamiguel novelmutationofmagel2inapatientwithschaafyangsyndromeandhypopituitarism |