Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome Article Swipe
Halyn Orellana
,
Jia Yan
,
Alex Paul
,
Mari Tokita
,
Yan Ding
,
Rajarshi Ghosh
,
Katie L. Lewis
,
Joie Davis
,
Leila Jamal
,
Colleen Jodarski
,
Morgan Similuk
,
Nermina Saucier
,
Zhanyang Zhu
,
Yihe Wang
,
Sitao Wu
,
Jason Ruggieri
,
Helen C. Su
,
Gulbu Uzel
,
Shareef Nahas
,
Megan A. Cooper
,
Magdalena Walkiewicz
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3389/fimmu.2024.1451212
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3389/fimmu.2024.1451212
Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or gonadal and somatic tissue(s), respectively, with risk of transmitting the variant to their offspring. In families with one or more affected offspring, occurrence of the same apparently de novo variants can be an indicator of mosaicism in either parent. Panel-based deep sequencing has the capacity to detect low-level mosaic variants with coverage exceeding the typical limit of detection provided by current, readily available sequencing techniques. In this study, we report three families with more than one affected offspring with either confirmed or apparent parental gonosomal or gonadal mosaicism for PIK3CD pathogenic variants. Data from targeted deep sequencing was suggestive of low-level maternal gonosomal mosaicism in Family 1. Through this approach we did not detect pathogenic variants in PIK3CD from parental samples in Family 2 and Family 3. We conclude that mosaicism was likely confined to the maternal gonads in Family 2. Subsequent long-read genome sequencing in Family 3 showed that the paternal chromosome harbored the pathogenic variant in PIK3CD in both affected children, consistent with paternal gonadal mosaicism. Detection of parental mosaic variants enables accurate risk assessment, informs reproductive decision-making, and provides helpful context to inform clinical management in families with PIK3CD pathogenic variants.
Related Topics
Concepts
Biology
Genetics
Offspring
Context (archaeology)
Germline mosaicism
Deep sequencing
Genome
Whole genome sequencing
DNA sequencing
Gene
Somatic cell
Pregnancy
Paleontology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3389/fimmu.2024.1451212
- OA Status
- gold
- References
- 10
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4402145674
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4402145674Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3389/fimmu.2024.1451212Digital Object Identifier
- Title
-
Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndromeWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
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2024Year of publication
- Publication date
-
2024-08-26Full publication date if available
- Authors
-
Halyn Orellana, Jia Yan, Alex Paul, Mari Tokita, Yan Ding, Rajarshi Ghosh, Katie L. Lewis, Joie Davis, Leila Jamal, Colleen Jodarski, Morgan Similuk, Nermina Saucier, Zhanyang Zhu, Yihe Wang, Sitao Wu, Jason Ruggieri, Helen C. Su, Gulbu Uzel, Shareef Nahas, Megan A. Cooper, Magdalena WalkiewiczList of authors in order
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https://doi.org/10.3389/fimmu.2024.1451212Publisher landing page
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://doi.org/10.3389/fimmu.2024.1451212Direct OA link when available
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Biology, Genetics, Offspring, Context (archaeology), Germline mosaicism, Deep sequencing, Genome, Whole genome sequencing, DNA sequencing, Gene, Somatic cell, Pregnancy, PaleontologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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0Total citation count in OpenAlex
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10Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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