Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children Article Swipe
Georgia Pitsava
,
Marcia L. Feldkamp
,
Nathan Pankratz
,
John Lane
,
Denise M. Kay
,
Kristin M. Conway
,
Gary M. Shaw
,
Jennita Reefhuis
,
Mary M. Jenkins
,
Lynn M. Almli
,
Andrew F. Olshan
,
Faith Pangilinan
,
Lawrence C. Brody
,
Robert J. Sicko
,
Charlotte A. Hobbs
,
Mike Bamshad
,
Daniel McGoldrick
,
Deborah A. Nickerson
,
Richard H. Finnell
,
James C. Mullikin
,
Paul A. Romitti
,
James L. Mills
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.62439
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.62439
Bladder exstrophy (BE) is a rare, lower ventral midline defect with the bladder and part of the urethra exposed. The etiology of BE is unknown but thought to be influenced by genetic variation with more recent studies suggesting a role for rare variants. As such, we conducted paired‐end exome sequencing in 26 child/mother/father trios. Three children had rare (allele frequency ≤ 0.0001 in several public databases) inherited variants in TSPAN4 , one with a loss‐of‐function variant and two with missense variants. Two children had loss‐of‐function variants in TUBE1 . Four children had rare missense or nonsense variants (one per child) in WNT3 , CRKL , MYH9 , or LZTR1 , genes previously associated with BE. We detected 17 de novo missense variants in 13 children and three de novo loss‐of‐function variants (AKR1C2 , PRRX1 , PPM1D) in three children (one per child). We also detected rare compound heterozygous loss‐of‐function variants in PLCH2 and CLEC4M and rare inherited missense or loss‐of‐function variants in additional genes applying autosomal recessive (three genes) and X‐linked recessive inheritance models (13 genes). Variants in two genes identified may implicate disruption in cell migration ( TUBE1 ) and adhesion ( TSPAN4 ) processes, mechanisms proposed for BE, and provide additional evidence for rare variants in the development of this defect.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/ajmg.a.62439
- OA Status
- green
- Cited By
- 5
- References
- 93
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3188277538
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3188277538Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1002/ajmg.a.62439Digital Object Identifier
- Title
-
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 childrenWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-08-05Full publication date if available
- Authors
-
Georgia Pitsava, Marcia L. Feldkamp, Nathan Pankratz, John Lane, Denise M. Kay, Kristin M. Conway, Gary M. Shaw, Jennita Reefhuis, Mary M. Jenkins, Lynn M. Almli, Andrew F. Olshan, Faith Pangilinan, Lawrence C. Brody, Robert J. Sicko, Charlotte A. Hobbs, Mike Bamshad, Daniel McGoldrick, Deborah A. Nickerson, Richard H. Finnell, James C. Mullikin, Paul A. Romitti, James L. MillsList of authors in order
- Landing page
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https://doi.org/10.1002/ajmg.a.62439Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://www.ncbi.nlm.nih.gov/pmc/articles/8446314Direct OA link when available
- Concepts
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Missense mutation, Exome sequencing, Loss function, Genetics, Biology, Nonsense, Exome, Allele, Gene, Compound heterozygosity, Nonsense mutation, Mutation, PhenotypeTop concepts (fields/topics) attached by OpenAlex
- Cited by
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5Total citation count in OpenAlex
- Citations by year (recent)
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2024: 1, 2023: 2, 2022: 1, 2021: 1Per-year citation counts (last 5 years)
- References (count)
-
93Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.child). | 142 |
| abstract_inverted_index.defect. | 213 |
| abstract_inverted_index.genes). | 176 |
| abstract_inverted_index.genetic | 32 |
| abstract_inverted_index.midline | 9 |
| abstract_inverted_index.provide | 202 |
| abstract_inverted_index.several | 64 |
| abstract_inverted_index.studies | 37 |
| abstract_inverted_index.thought | 27 |
| abstract_inverted_index.unknown | 25 |
| abstract_inverted_index.urethra | 18 |
| abstract_inverted_index.variant | 76 |
| abstract_inverted_index.ventral | 8 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.Variants | 177 |
| abstract_inverted_index.adhesion | 192 |
| abstract_inverted_index.applying | 165 |
| abstract_inverted_index.children | 56, 83, 91, 125, 139 |
| abstract_inverted_index.compound | 147 |
| abstract_inverted_index.detected | 117, 145 |
| abstract_inverted_index.etiology | 21 |
| abstract_inverted_index.evidence | 204 |
| abstract_inverted_index.exposed. | 19 |
| abstract_inverted_index.missense | 80, 94, 121, 158 |
| abstract_inverted_index.nonsense | 96 |
| abstract_inverted_index.proposed | 198 |
| abstract_inverted_index.variants | 68, 86, 97, 122, 131, 150, 161, 207 |
| abstract_inverted_index.autosomal | 166 |
| abstract_inverted_index.conducted | 47 |
| abstract_inverted_index.exstrophy | 2 |
| abstract_inverted_index.frequency | 60 |
| abstract_inverted_index.implicate | 183 |
| abstract_inverted_index.inherited | 67, 157 |
| abstract_inverted_index.migration | 187 |
| abstract_inverted_index.recessive | 167, 172 |
| abstract_inverted_index.variants. | 43, 81 |
| abstract_inverted_index.variation | 33 |
| abstract_inverted_index.X‐linked | 171 |
| abstract_inverted_index.additional | 163, 203 |
| abstract_inverted_index.associated | 113 |
| abstract_inverted_index.databases) | 66 |
| abstract_inverted_index.disruption | 184 |
| abstract_inverted_index.identified | 181 |
| abstract_inverted_index.influenced | 30 |
| abstract_inverted_index.mechanisms | 197 |
| abstract_inverted_index.previously | 112 |
| abstract_inverted_index.processes, | 196 |
| abstract_inverted_index.sequencing | 50 |
| abstract_inverted_index.suggesting | 38 |
| abstract_inverted_index.development | 210 |
| abstract_inverted_index.inheritance | 173 |
| abstract_inverted_index.heterozygous | 148 |
| abstract_inverted_index.paired‐end | 48 |
| abstract_inverted_index.child/mother/father | 53 |
| abstract_inverted_index.loss‐of‐function | 75, 85, 130, 149, 160 |
| cited_by_percentile_year.max | 96 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5103077118 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 22 |
| corresponding_institution_ids | https://openalex.org/I1299303238, https://openalex.org/I4210144228 |
| citation_normalized_percentile.value | 0.7617121 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |