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First documented case of Myhre syndrome in Romania: A case report
Myhre syndrome is a rare genetic autosomal dominant connective tissue disorder, characterized by developmental delay, characteristic facial features, various bone and joint abnormalities, distinctive cardiovascular, ophthalmological and ear, nose and throat (ENT) manifestations, in association with...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8972842/ https://www.ncbi.nlm.nih.gov/pubmed/35386616 http://dx.doi.org/10.3892/etm.2022.11252 |
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author | Cătană, Andreea Simonescu-Colan, Ruxandra Cuzmici-Barabaș, Zina Militaru, Diana Iordănescu, Irina Militaru, Mariela Sanda |
author_facet | Cătană, Andreea Simonescu-Colan, Ruxandra Cuzmici-Barabaș, Zina Militaru, Diana Iordănescu, Irina Militaru, Mariela Sanda |
author_sort | Cătană, Andreea |
collection | PubMed |
description | Myhre syndrome is a rare genetic autosomal dominant connective tissue disorder, characterized by developmental delay, characteristic facial features, various bone and joint abnormalities, distinctive cardiovascular, ophthalmological and ear, nose and throat (ENT) manifestations, in association with mild to moderate intellectual disability and autism or autism spectrum disorder-like behaviour. The diagnosis of Myhre syndrome is established corroborating the clinical findings with SMAD4 heterozygous mutation identified in the majority of the patients. SMAD4 gene mutations result in abnormal TGF-β signalling in several cell types, which affects the development of several body systems and leads to the specific phenotype of Myhre syndrome. We herein report the case of an 18-year-old female patient who was diagnosed at the age of 17 years with Myhre syndrome, the first documented case of this syndrome in Romania. Sequence analysis of protein-coding genes using whole-exome analysis identified a ‘de novo’, heterozygous missense variant of SMAD4, c.1498A>G, p. (Ile500Val), which is pathogenic for Myhre syndrome. Although this condition is rare, a series of particularities were identified in the present case, consisting of severe allergic reactions, recurrent ENT tumour development and delayed dental eruption, which have not been described in Myhre syndrome to date, to the best of the authors' knowledge. |
format | Online Article Text |
id | pubmed-8972842 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | D.A. Spandidos |
record_format | MEDLINE/PubMed |
spelling | pubmed-89728422022-04-05 First documented case of Myhre syndrome in Romania: A case report Cătană, Andreea Simonescu-Colan, Ruxandra Cuzmici-Barabaș, Zina Militaru, Diana Iordănescu, Irina Militaru, Mariela Sanda Exp Ther Med Case Report Myhre syndrome is a rare genetic autosomal dominant connective tissue disorder, characterized by developmental delay, characteristic facial features, various bone and joint abnormalities, distinctive cardiovascular, ophthalmological and ear, nose and throat (ENT) manifestations, in association with mild to moderate intellectual disability and autism or autism spectrum disorder-like behaviour. The diagnosis of Myhre syndrome is established corroborating the clinical findings with SMAD4 heterozygous mutation identified in the majority of the patients. SMAD4 gene mutations result in abnormal TGF-β signalling in several cell types, which affects the development of several body systems and leads to the specific phenotype of Myhre syndrome. We herein report the case of an 18-year-old female patient who was diagnosed at the age of 17 years with Myhre syndrome, the first documented case of this syndrome in Romania. Sequence analysis of protein-coding genes using whole-exome analysis identified a ‘de novo’, heterozygous missense variant of SMAD4, c.1498A>G, p. (Ile500Val), which is pathogenic for Myhre syndrome. Although this condition is rare, a series of particularities were identified in the present case, consisting of severe allergic reactions, recurrent ENT tumour development and delayed dental eruption, which have not been described in Myhre syndrome to date, to the best of the authors' knowledge. D.A. Spandidos 2022-05 2022-03-10 /pmc/articles/PMC8972842/ /pubmed/35386616 http://dx.doi.org/10.3892/etm.2022.11252 Text en Copyright: © Cătană et al. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. |
spellingShingle | Case Report Cătană, Andreea Simonescu-Colan, Ruxandra Cuzmici-Barabaș, Zina Militaru, Diana Iordănescu, Irina Militaru, Mariela Sanda First documented case of Myhre syndrome in Romania: A case report |
title | First documented case of Myhre syndrome in Romania: A case report |
title_full | First documented case of Myhre syndrome in Romania: A case report |
title_fullStr | First documented case of Myhre syndrome in Romania: A case report |
title_full_unstemmed | First documented case of Myhre syndrome in Romania: A case report |
title_short | First documented case of Myhre syndrome in Romania: A case report |
title_sort | first documented case of myhre syndrome in romania: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8972842/ https://www.ncbi.nlm.nih.gov/pubmed/35386616 http://dx.doi.org/10.3892/etm.2022.11252 |
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