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Case Reports
. 2018 Sep 19;6(11):2092-2095.
doi: 10.1002/ccr3.1806. eCollection 2018 Nov.

A case for expanding carrier testing to include actionable X-linked disorders

Alan F Rope  1 , Tia L Kauffman  2 , Pat Himes  1 , Laura M Amendola  3 , Sumit Punj  4 , Yassmine Akkari  4 , Amiee Potter  4 , James V Davis  2 , Jennifer L Schneider  2 , Jacob A Reiss  2 , Mari J Gilmore  1 , Carmit K McMullen  2 , Deborah A Nickerson  5 , C Sue Richards  4 , Gail P Jarvik  3   5 , Benjamin S Wilfond  6   7 , Katrina A B Goddard  2
Affiliations
Case Reports

A case for expanding carrier testing to include actionable X-linked disorders

Alan F Rope et al. Clin Case Rep. .

Abstract

A research study utilizing whole-genome sequence analysis for preconception carrier screening provided a genome-first detection of a severe de novo Factor VIII mutation in a woman with implications for pregnancy management and life-saving interventions of her newborn son, and a challenge to the existing paradigm regarding carrier testing.

Keywords: X‐linked; expanded carrier screening; informed decision making.

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Figures

Figure 1
Figure 1
The c.3144G>A (p.Trp1048*) would eliminate a region of the gene product, which is important in the trafficking of the protein from the endoplasmic reticulum to the Golgi apparatus and would predictably disrupt interactions with von Willebrand factor, cell membrane phospholipids, activated Factors IX and X and the copper‐binding domain.
Figure 2
Figure 2
Research participant's affected son at 7 months of age. Copyright 2017, Click by Suzanne.
See this image and copyright information in PMC

References

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