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

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 varia...

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Autores principales: Lenberg, Jerica L., Pretorius, Dolores H., Rupe, Eric S., Jones, Marilyn C., Ramos, Gladys A., Andreasen, Tara S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452501/
https://www.ncbi.nlm.nih.gov/pubmed/30997057
http://dx.doi.org/10.1002/ccr3.2051
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author Lenberg, Jerica L.
Pretorius, Dolores H.
Rupe, Eric S.
Jones, Marilyn C.
Ramos, Gladys A.
Andreasen, Tara S.
author_facet Lenberg, Jerica L.
Pretorius, Dolores H.
Rupe, Eric S.
Jones, Marilyn C.
Ramos, Gladys A.
Andreasen, Tara S.
author_sort Lenberg, Jerica L.
collection PubMed
description 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.
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spelling pubmed-64525012019-04-17 Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum Lenberg, Jerica L. Pretorius, Dolores H. Rupe, Eric S. Jones, Marilyn C. Ramos, Gladys A. Andreasen, Tara S. Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2019-02-19 /pmc/articles/PMC6452501/ /pubmed/30997057 http://dx.doi.org/10.1002/ccr3.2051 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Lenberg, Jerica L.
Pretorius, Dolores H.
Rupe, Eric S.
Jones, Marilyn C.
Ramos, Gladys A.
Andreasen, Tara S.
Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum
title 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_short 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
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452501/
https://www.ncbi.nlm.nih.gov/pubmed/30997057
http://dx.doi.org/10.1002/ccr3.2051
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