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

Jerica L. Lenberg; Dolores H. Pretorius; Eric S. Rupe; Marilyn C. Jones; Gladys A. Ramos; Tara S. Andreasen

doi:10.1002/ccr3.2051

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

Jerica L. Lenberg, Dolores H. Pretorius, Eric S. Rupe, Marilyn C. Jones, Gladys A. Ramos, Tara S. Andreasen

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	656-660
Number of pages	5
Journal	Clinical Case Reports
Volume	7
Issue number	4
DOIs	https://doi.org/10.1002/ccr3.2051
State	Published - Apr 2019
Externally published	Yes

ASJC Scopus subject areas

General Medicine

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abstract = "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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AU - Ramos, Gladys A.

AU - Andreasen, Tara S.

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

Abstract

ASJC Scopus subject areas

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