Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2

Fraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital hig...

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Autores principales: Ikeda, Shoko, Akamatsu, Chika, Ijuin, Akifumi, Nagashima, Ami, Sasaki, Megumi, Mochizuki, Akihiko, Nagase, Hiromi, Enomoto, Yumi, Kuroda, Yukiko, Kurosawa, Kenji, Ishikawa, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7532185/
https://www.ncbi.nlm.nih.gov/pubmed/33082983
http://dx.doi.org/10.1038/s41439-020-00119-5
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author Ikeda, Shoko
Akamatsu, Chika
Ijuin, Akifumi
Nagashima, Ami
Sasaki, Megumi
Mochizuki, Akihiko
Nagase, Hiromi
Enomoto, Yumi
Kuroda, Yukiko
Kurosawa, Kenji
Ishikawa, Hiroshi
author_facet Ikeda, Shoko
Akamatsu, Chika
Ijuin, Akifumi
Nagashima, Ami
Sasaki, Megumi
Mochizuki, Akihiko
Nagase, Hiromi
Enomoto, Yumi
Kuroda, Yukiko
Kurosawa, Kenji
Ishikawa, Hiroshi
author_sort Ikeda, Shoko
collection PubMed
description Fraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital high airway obstruction syndrome and renal agenesis. Syndactyly of both hands and cryptophthalmos were noted postnatally, and the diagnosis was confirmed by genetic analysis, which showed novel compound heterozygous variants of FREM2.
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spelling pubmed-75321852020-10-19 Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2 Ikeda, Shoko Akamatsu, Chika Ijuin, Akifumi Nagashima, Ami Sasaki, Megumi Mochizuki, Akihiko Nagase, Hiromi Enomoto, Yumi Kuroda, Yukiko Kurosawa, Kenji Ishikawa, Hiroshi Hum Genome Var Data Report Fraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital high airway obstruction syndrome and renal agenesis. Syndactyly of both hands and cryptophthalmos were noted postnatally, and the diagnosis was confirmed by genetic analysis, which showed novel compound heterozygous variants of FREM2. Nature Publishing Group UK 2020-10-02 /pmc/articles/PMC7532185/ /pubmed/33082983 http://dx.doi.org/10.1038/s41439-020-00119-5 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Ikeda, Shoko
Akamatsu, Chika
Ijuin, Akifumi
Nagashima, Ami
Sasaki, Megumi
Mochizuki, Akihiko
Nagase, Hiromi
Enomoto, Yumi
Kuroda, Yukiko
Kurosawa, Kenji
Ishikawa, Hiroshi
Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2
title Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2
title_full Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2
title_fullStr Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2
title_full_unstemmed Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2
title_short Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2
title_sort prenatal diagnosis of fraser syndrome caused by novel variants of frem2
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7532185/
https://www.ncbi.nlm.nih.gov/pubmed/33082983
http://dx.doi.org/10.1038/s41439-020-00119-5
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