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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Published inHuman genome variation Vol. 7; no. 1; p. 32
Main Authors Ikeda, Shoko, Akamatsu, Chika, Ijuin, Akifumi, Nagashima, Ami, Sasaki, Megumi, Mochizuki, Akihiko, Nagase, Hiromi, Enomoto, Yumi, Kuroda, Yukiko, Kurosawa, Kenji, Ishikawa, Hiroshi
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 2020
Springer Nature B.V
Subjects
631/208
631/208/2489/144
Airway management
Ascites
Biomedical and Life Sciences
Biomedicine
Cell adhesion & migration
Data Report
Families & family life
Fetuses
Gene Expression
Gene Function
Gene Therapy
Genomes
Human Genetics
Lungs
Molecular Medicine
Mutation
Proteins
Siblings
Ultrasonic imaging
Genetics
Disease genetics
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Summary: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 .
Bibliography:ObjectType-Article-1
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ObjectType-Feature-2
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ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-020-00119-5