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Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature

19q13 microdeletion syndrome is a very rare genetic disease characterized by pre- and postnatal growth retardation, intellectual disability, expressive language impairment, ectodermal dysplasia, and slender habitus. Since the description of the first case in 1998, less than 30 cases have been report...

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Autores principales: Shelby, Elena-Silvia, Morris, Michael, Pădure, Liliana, Mirea, Andrada, Cocoș, Relu, Cărămizaru, Alexandru, Șerban-Sosoi, Simona, Pîrvu, Andrei, Streață, Ioana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872157/
https://www.ncbi.nlm.nih.gov/pubmed/35205257
http://dx.doi.org/10.3390/genes13020212
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author Shelby, Elena-Silvia
Morris, Michael
Pădure, Liliana
Mirea, Andrada
Cocoș, Relu
Cărămizaru, Alexandru
Șerban-Sosoi, Simona
Pîrvu, Andrei
Streață, Ioana
author_facet Shelby, Elena-Silvia
Morris, Michael
Pădure, Liliana
Mirea, Andrada
Cocoș, Relu
Cărămizaru, Alexandru
Șerban-Sosoi, Simona
Pîrvu, Andrei
Streață, Ioana
author_sort Shelby, Elena-Silvia
collection PubMed
description 19q13 microdeletion syndrome is a very rare genetic disease characterized by pre- and postnatal growth retardation, intellectual disability, expressive language impairment, ectodermal dysplasia, and slender habitus. Since the description of the first case in 1998, less than 30 cases have been reported worldwide. This article aims to review the knowledge gathered so far on this subject and to present the case of a 10-year-old girl admitted to the National University Center for Children Neurorehabilitation “Dr. Nicolae Robanescu” in November of 2018 who presented a slender habitus, growth retardation, facial dysmorphism, skeletal abnormalities, and ectodermal dysplasia. Array-CGH analysis revealed a 1.53 Mb deletion in the 19q13.32-q13.33 region. MLPA for the FKRP gene revealed that the microdeletion was de novo. The patient’s phenotype overlapped with the clinical features of 19q13 microdeletion syndrome. To our knowledge, this is the first case of 19q13 microdeletion syndrome to ever be reported in Romania. We believe our case presents additional features that have never been previously reported in this syndrome, namely, dilatation of the third ventricle and subependymal cyst, left iris coloboma, and tracheomalacia. Moreover, unlike the other 19q13 microdeletion cases that presented with dystonia, our patient also presented dystonia but, interestingly, without having haploinsufficiency of the KMT2B gene.
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spelling pubmed-88721572022-02-25 Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature Shelby, Elena-Silvia Morris, Michael Pădure, Liliana Mirea, Andrada Cocoș, Relu Cărămizaru, Alexandru Șerban-Sosoi, Simona Pîrvu, Andrei Streață, Ioana Genes (Basel) Article 19q13 microdeletion syndrome is a very rare genetic disease characterized by pre- and postnatal growth retardation, intellectual disability, expressive language impairment, ectodermal dysplasia, and slender habitus. Since the description of the first case in 1998, less than 30 cases have been reported worldwide. This article aims to review the knowledge gathered so far on this subject and to present the case of a 10-year-old girl admitted to the National University Center for Children Neurorehabilitation “Dr. Nicolae Robanescu” in November of 2018 who presented a slender habitus, growth retardation, facial dysmorphism, skeletal abnormalities, and ectodermal dysplasia. Array-CGH analysis revealed a 1.53 Mb deletion in the 19q13.32-q13.33 region. MLPA for the FKRP gene revealed that the microdeletion was de novo. The patient’s phenotype overlapped with the clinical features of 19q13 microdeletion syndrome. To our knowledge, this is the first case of 19q13 microdeletion syndrome to ever be reported in Romania. We believe our case presents additional features that have never been previously reported in this syndrome, namely, dilatation of the third ventricle and subependymal cyst, left iris coloboma, and tracheomalacia. Moreover, unlike the other 19q13 microdeletion cases that presented with dystonia, our patient also presented dystonia but, interestingly, without having haploinsufficiency of the KMT2B gene. MDPI 2022-01-24 /pmc/articles/PMC8872157/ /pubmed/35205257 http://dx.doi.org/10.3390/genes13020212 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Shelby, Elena-Silvia
Morris, Michael
Pădure, Liliana
Mirea, Andrada
Cocoș, Relu
Cărămizaru, Alexandru
Șerban-Sosoi, Simona
Pîrvu, Andrei
Streață, Ioana
Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature
title Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature
title_full Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature
title_fullStr Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature
title_full_unstemmed Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature
title_short Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature
title_sort expanding the clinical phenotype of 19q interstitial deletions: a new case with 19q13.32-q13.33 deletion and short review of the literature
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872157/
https://www.ncbi.nlm.nih.gov/pubmed/35205257
http://dx.doi.org/10.3390/genes13020212
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