Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum

Key Clinical Message Whole‐exome sequencing in a female fetus detected a USP9X variant. This X‐linked gene was recently associated with intellectual disability and distinct pattern of malformation in females. Isolated agenesis of the corpus callosum has not been reported in association with USP9X. I...

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Main Authors:	Jerica L. Lenberg, Dolores H. Pretorius, Eric S. Rupe, Marilyn C. Jones, Gladys A. Ramos, Tara S. Andreasen
Format:	Article
Language:	English
Published:	Wiley 2019-04-01
Series:	Clinical Case Reports
Online Access:	https://doi.org/10.1002/ccr3.2051

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spelling	doaj-4ab4f5c7e5b5496f8d17cd026f9d0d942020-11-25T01:11:44ZengWileyClinical Case Reports2050-09042019-04-017465666010.1002/ccr3.2051Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosumJerica L. Lenberg0Dolores H. Pretorius1Eric S. Rupe2Marilyn C. Jones3Gladys A. Ramos4Tara S. Andreasen5Department of Genetic Counseling Augustana University Sioux Falls South DakotaDepartment of Radiology University of California San Diego CaliforniaDepartment of Radiology University of California San Diego CaliforniaDivision of Genetics, Department of Pediatrics University of California San Diego CaliforniaDivision of Maternal‐Fetal Medicine, Department of Reproductive Medicine University of California San Diego CaliforniaDivision of Genetics, Department of Pediatrics University of California San Diego CaliforniaKey Clinical Message Whole‐exome sequencing in a female fetus detected a USP9X variant. This X‐linked gene was recently associated with intellectual disability and distinct pattern of malformation in females. Isolated agenesis of the corpus callosum has not been reported in association with USP9X. Identifying this variant impacted management of the subsequent pregnancy.https://doi.org/10.1002/ccr3.2051
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Jerica L. Lenberg Dolores H. Pretorius Eric S. Rupe Marilyn C. Jones Gladys A. Ramos Tara S. Andreasen
spellingShingle	Jerica L. Lenberg Dolores H. Pretorius Eric S. Rupe Marilyn C. Jones Gladys A. Ramos Tara S. Andreasen Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum Clinical Case Reports
author_facet	Jerica L. Lenberg Dolores H. Pretorius Eric S. Rupe Marilyn C. Jones Gladys A. Ramos Tara S. Andreasen
author_sort	Jerica L. Lenberg
title	Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum
title_short	Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum
title_full	Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum
title_fullStr	Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum
title_full_unstemmed	Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum
title_sort	whole‐exome sequencing reveals novel usp9x variant in female fetus with isolated agenesis of the corpus callosum
publisher	Wiley
series	Clinical Case Reports
issn	2050-0904
publishDate	2019-04-01
description	Key Clinical Message Whole‐exome sequencing in a female fetus detected a USP9X variant. This X‐linked gene was recently associated with intellectual disability and distinct pattern of malformation in females. Isolated agenesis of the corpus callosum has not been reported in association with USP9X. Identifying this variant impacted management of the subsequent pregnancy.
url	https://doi.org/10.1002/ccr3.2051
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Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum

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