The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease
© 2024 John Wiley & Sons Ltd..
OBJECTIVE: GREB1L has been linked prenatally to Potter's sequence, as well as less severe anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is unknown. The purpose of this study was to characterize known and novel pre- and postnatal phenotypes associated with GREB1L.
METHODS: We solicited cases from the Fetal Sequencing Consortium, screened a population-based genomic database, and conducted a comprehensive literature search to identify disease cases associated with GREB1L. We present a detailed phenotypic spectrum and molecular changes.
RESULTS: One hundred twenty-seven individuals with 51 unique pathogenic or likely pathogenic GREB1L variants were identified. 24 (47%) variants were associated with isolated kidney anomalies, 19 (37%) with anomalies of multiple systems, including one case of hypoplastic left heart syndrome, five (10%) with isolated sensorineural hearing loss, two (4%) with isolated uterine agenesis; and one (2%) with isolated tetralogy of Fallot.
CONCLUSION: GREB1L may cause complex congenital heart disease (CHD) in humans. Clinicians should consider GREB1L testing in the setting of CHD, and cardiac screening in the setting of GREB1L variants.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:44 |
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| Enthalten in: |
Prenatal diagnosis - 44(2024), 3 vom: 01. März, Seite 343-351 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Zhao, Emily [VerfasserIn] |
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| Links: |
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| Themen: |
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| Anmerkungen: |
Date Completed 18.03.2024 Date Revised 26.04.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1002/pd.6527 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM367757818 |
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| 245 | 1 | 4 | |a The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease |
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| 500 | |a Date Completed 18.03.2024 | ||
| 500 | |a Date Revised 26.04.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2024 John Wiley & Sons Ltd. | ||
| 520 | |a OBJECTIVE: GREB1L has been linked prenatally to Potter's sequence, as well as less severe anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is unknown. The purpose of this study was to characterize known and novel pre- and postnatal phenotypes associated with GREB1L | ||
| 520 | |a METHODS: We solicited cases from the Fetal Sequencing Consortium, screened a population-based genomic database, and conducted a comprehensive literature search to identify disease cases associated with GREB1L. We present a detailed phenotypic spectrum and molecular changes | ||
| 520 | |a RESULTS: One hundred twenty-seven individuals with 51 unique pathogenic or likely pathogenic GREB1L variants were identified. 24 (47%) variants were associated with isolated kidney anomalies, 19 (37%) with anomalies of multiple systems, including one case of hypoplastic left heart syndrome, five (10%) with isolated sensorineural hearing loss, two (4%) with isolated uterine agenesis; and one (2%) with isolated tetralogy of Fallot | ||
| 520 | |a CONCLUSION: GREB1L may cause complex congenital heart disease (CHD) in humans. Clinicians should consider GREB1L testing in the setting of CHD, and cardiac screening in the setting of GREB1L variants | ||
| 650 | 4 | |a Journal Article | |
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| 700 | 1 | |a Solowiejczyk, David |e verfasserin |4 aut | |
| 700 | 1 | |a Vora, Neeta L |e verfasserin |4 aut | |
| 700 | 1 | |a Gilmore, Kelly L |e verfasserin |4 aut | |
| 700 | 1 | |a Giordano, Jessica L |e verfasserin |4 aut | |
| 700 | 1 | |a Wapner, Ronald J |e verfasserin |4 aut | |
| 700 | 1 | |a Sanna-Cherchi, Simone |e verfasserin |4 aut | |
| 700 | 1 | |a Lyford, Alex |e verfasserin |4 aut | |
| 700 | 1 | |a Jelin, Angie C |e verfasserin |4 aut | |
| 700 | 1 | |a Gharavi, Ali G |e verfasserin |4 aut | |
| 700 | 1 | |a Hays, Thomas |e verfasserin |4 aut | |
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