Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery
Usually overlooked by physicians, olfactory abnormalities are not uncommon. Olfactory malformations have recently been reported in an emerging group of genetic disorders called Mendelian Disorders of the Epigenetic Machinery (MDEM). This study aims to determine the prevalence of olfactory malformati...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-08-01
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| Series: | Frontiers in Cell and Developmental Biology |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fcell.2020.00710/full |
| _version_ | 1817989777560961024 |
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| author | Sebastiano Aleo Claudia Cinnante Sabrina Avignone Elisabetta Prada Giulietta Scuvera Paola Francesca Ajmone Angelo Selicorni Maria Antonella Costantino Fabio Triulzi Paola Marchisio Paola Marchisio Cristina Gervasini Donatella Milani |
| author_facet | Sebastiano Aleo Claudia Cinnante Sabrina Avignone Elisabetta Prada Giulietta Scuvera Paola Francesca Ajmone Angelo Selicorni Maria Antonella Costantino Fabio Triulzi Paola Marchisio Paola Marchisio Cristina Gervasini Donatella Milani |
| author_sort | Sebastiano Aleo |
| collection | DOAJ |
| description | Usually overlooked by physicians, olfactory abnormalities are not uncommon. Olfactory malformations have recently been reported in an emerging group of genetic disorders called Mendelian Disorders of the Epigenetic Machinery (MDEM). This study aims to determine the prevalence of olfactory malformations in a heterogeneous group of subjects with MDEM. We reviewed the clinical data of 35 patients, 20 females and 15 males, with a mean age of 9.52 years (SD 4.99). All patients had a MDEM and an already available high-resolution brain MRI scan. Two experienced neuroradiologists reviewed the MR images, noting abnormalities and classifying olfactory malformations. Main findings included Corpus Callosum, Cerebellar vermis, and olfactory defects. The latter were found in 11/35 cases (31.4%), of which 7/11 had Rubinstein-Taybi syndrome (RSTS), 2/11 had CHARGE syndrome, 1/11 had Kleefstra syndrome (KLFS), and 1/11 had Weaver syndrome (WVS). The irregularities mainly concerned the olfactory bulbs and were bilateral in 9/11 patients. With over 30% of our sample having an olfactory malformation, this study reveals a possible new diagnostic marker for MDEM and links the epigenetic machinery to the development of the olfactory bulbs. |
| first_indexed | 2024-04-14T00:51:17Z |
| format | Article |
| id | doaj.art-f3764a3467c14d6b9656f6852a32c381 |
| institution | Directory Open Access Journal |
| issn | 2296-634X |
| language | English |
| last_indexed | 2024-04-14T00:51:17Z |
| publishDate | 2020-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cell and Developmental Biology |
| spelling | doaj.art-f3764a3467c14d6b9656f6852a32c3812022-12-22T02:21:48ZengFrontiers Media S.A.Frontiers in Cell and Developmental Biology2296-634X2020-08-01810.3389/fcell.2020.00710562015Olfactory Malformations in Mendelian Disorders of the Epigenetic MachinerySebastiano Aleo0Claudia Cinnante1Sabrina Avignone2Elisabetta Prada3Giulietta Scuvera4Paola Francesca Ajmone5Angelo Selicorni6Maria Antonella Costantino7Fabio Triulzi8Paola Marchisio9Paola Marchisio10Cristina Gervasini11Donatella Milani12Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, ItalyFondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Neuroradiology Unit, Università degli Studi di Milano, Milan, ItalyFondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Neuroradiology Unit, Università degli Studi di Milano, Milan, ItalyPediatric Highly Intensive Care Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, ItalyPediatric Highly Intensive Care Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, ItalyChild and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, ItalyUnit of Pediatric, Presidio S. Fermo, ASST Lariana, Como, ItalyChild and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, ItalyFondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Neuroradiology Unit, Università degli Studi di Milano, Milan, ItalyPediatric Highly Intensive Care Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, ItalyDepartment of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, ItalyDivision of Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, ItalyPediatric Highly Intensive Care Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, ItalyUsually overlooked by physicians, olfactory abnormalities are not uncommon. Olfactory malformations have recently been reported in an emerging group of genetic disorders called Mendelian Disorders of the Epigenetic Machinery (MDEM). This study aims to determine the prevalence of olfactory malformations in a heterogeneous group of subjects with MDEM. We reviewed the clinical data of 35 patients, 20 females and 15 males, with a mean age of 9.52 years (SD 4.99). All patients had a MDEM and an already available high-resolution brain MRI scan. Two experienced neuroradiologists reviewed the MR images, noting abnormalities and classifying olfactory malformations. Main findings included Corpus Callosum, Cerebellar vermis, and olfactory defects. The latter were found in 11/35 cases (31.4%), of which 7/11 had Rubinstein-Taybi syndrome (RSTS), 2/11 had CHARGE syndrome, 1/11 had Kleefstra syndrome (KLFS), and 1/11 had Weaver syndrome (WVS). The irregularities mainly concerned the olfactory bulbs and were bilateral in 9/11 patients. With over 30% of our sample having an olfactory malformation, this study reveals a possible new diagnostic marker for MDEM and links the epigenetic machinery to the development of the olfactory bulbs.https://www.frontiersin.org/article/10.3389/fcell.2020.00710/fullepigeneticsneuroimagingnervous system diseases/geneticsolfactory bulbrare diseasesmendelian disorders of the epigenetic machinery |
| spellingShingle | Sebastiano Aleo Claudia Cinnante Sabrina Avignone Elisabetta Prada Giulietta Scuvera Paola Francesca Ajmone Angelo Selicorni Maria Antonella Costantino Fabio Triulzi Paola Marchisio Paola Marchisio Cristina Gervasini Donatella Milani Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery Frontiers in Cell and Developmental Biology epigenetics neuroimaging nervous system diseases/genetics olfactory bulb rare diseases mendelian disorders of the epigenetic machinery |
| title | Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery |
| title_full | Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery |
| title_fullStr | Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery |
| title_full_unstemmed | Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery |
| title_short | Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery |
| title_sort | olfactory malformations in mendelian disorders of the epigenetic machinery |
| topic | epigenetics neuroimaging nervous system diseases/genetics olfactory bulb rare diseases mendelian disorders of the epigenetic machinery |
| url | https://www.frontiersin.org/article/10.3389/fcell.2020.00710/full |
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