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Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene
Agnathia-otocephaly complex (AOC) is a rare and usually lethal malformation typically characterized by hypoplasia or the absence of the mandible, ventromedial and caudal displacement of the ears with or without the fusion of the ears, a small oral aperture with or without a tongue hypoplasia. Its in...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778614/ https://www.ncbi.nlm.nih.gov/pubmed/36553536 http://dx.doi.org/10.3390/genes13122269 |
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author | Fabiani, Marco Libotte, Francesco Margiotti, Katia Tannous, Dina Khader Issa Sparacino, Davide D’Aleo, Maria Pia Monaco, Francesca Dello Russo, Claudio Mesoraca, Alvaro Giorlandino, Claudio |
author_facet | Fabiani, Marco Libotte, Francesco Margiotti, Katia Tannous, Dina Khader Issa Sparacino, Davide D’Aleo, Maria Pia Monaco, Francesca Dello Russo, Claudio Mesoraca, Alvaro Giorlandino, Claudio |
author_sort | Fabiani, Marco |
collection | PubMed |
description | Agnathia-otocephaly complex (AOC) is a rare and usually lethal malformation typically characterized by hypoplasia or the absence of the mandible, ventromedial and caudal displacement of the ears with or without the fusion of the ears, a small oral aperture with or without a tongue hypoplasia. Its incidence is reported as 1 in 70,000 births and its etiology has been attributed to both genetic and teratogenic causes. AOC is characterized by a wide severity clinical spectrum even when occurring within the same family, ranging from a mild mandibular defect to an extreme facial aberration incompatible with life. Most AOC cases are due to a de novo sporadic mutation. Given the genetic heterogeneity, many genes have been reported to be implicated in this disease but to date, the link to only two genes has been confirmed in the development of this complex: the orthodenticle homeobox 2 (OTX2) gene and the paired related homeobox 1 (PRRX1) gene. In this article, we report a case of a fetus with severe AOC, diagnosed in routine ultrasound scan in the first trimester of pregnancy. The genetic analysis showed a novel 10 bp deletion mutation c.766_775delTTGGGTTTTA in the OTX2 gene, which has never been reported before, together with a missense variant c.778T>C in cis conformation. |
format | Online Article Text |
id | pubmed-9778614 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-97786142022-12-23 Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene Fabiani, Marco Libotte, Francesco Margiotti, Katia Tannous, Dina Khader Issa Sparacino, Davide D’Aleo, Maria Pia Monaco, Francesca Dello Russo, Claudio Mesoraca, Alvaro Giorlandino, Claudio Genes (Basel) Case Report Agnathia-otocephaly complex (AOC) is a rare and usually lethal malformation typically characterized by hypoplasia or the absence of the mandible, ventromedial and caudal displacement of the ears with or without the fusion of the ears, a small oral aperture with or without a tongue hypoplasia. Its incidence is reported as 1 in 70,000 births and its etiology has been attributed to both genetic and teratogenic causes. AOC is characterized by a wide severity clinical spectrum even when occurring within the same family, ranging from a mild mandibular defect to an extreme facial aberration incompatible with life. Most AOC cases are due to a de novo sporadic mutation. Given the genetic heterogeneity, many genes have been reported to be implicated in this disease but to date, the link to only two genes has been confirmed in the development of this complex: the orthodenticle homeobox 2 (OTX2) gene and the paired related homeobox 1 (PRRX1) gene. In this article, we report a case of a fetus with severe AOC, diagnosed in routine ultrasound scan in the first trimester of pregnancy. The genetic analysis showed a novel 10 bp deletion mutation c.766_775delTTGGGTTTTA in the OTX2 gene, which has never been reported before, together with a missense variant c.778T>C in cis conformation. MDPI 2022-12-02 /pmc/articles/PMC9778614/ /pubmed/36553536 http://dx.doi.org/10.3390/genes13122269 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 | Case Report Fabiani, Marco Libotte, Francesco Margiotti, Katia Tannous, Dina Khader Issa Sparacino, Davide D’Aleo, Maria Pia Monaco, Francesca Dello Russo, Claudio Mesoraca, Alvaro Giorlandino, Claudio Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene |
title | Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene |
title_full | Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene |
title_fullStr | Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene |
title_full_unstemmed | Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene |
title_short | Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene |
title_sort | agnathia-otocephaly complex due to a de novo deletion in the otx2 gene |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778614/ https://www.ncbi.nlm.nih.gov/pubmed/36553536 http://dx.doi.org/10.3390/genes13122269 |
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