Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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
_version_ 1784856406299508736
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
work_keys_str_mv AT fabianimarco agnathiaotocephalycomplexduetoadenovodeletionintheotx2gene
AT libottefrancesco agnathiaotocephalycomplexduetoadenovodeletionintheotx2gene
AT margiottikatia agnathiaotocephalycomplexduetoadenovodeletionintheotx2gene
AT tannousdinakhaderissa agnathiaotocephalycomplexduetoadenovodeletionintheotx2gene
AT sparacinodavide agnathiaotocephalycomplexduetoadenovodeletionintheotx2gene
AT daleomariapia agnathiaotocephalycomplexduetoadenovodeletionintheotx2gene
AT monacofrancesca agnathiaotocephalycomplexduetoadenovodeletionintheotx2gene
AT dellorussoclaudio agnathiaotocephalycomplexduetoadenovodeletionintheotx2gene
AT mesoracaalvaro agnathiaotocephalycomplexduetoadenovodeletionintheotx2gene
AT giorlandinoclaudio agnathiaotocephalycomplexduetoadenovodeletionintheotx2gene