作者
Emily Zhao, Miles Bomback, Atlas Khan, Sarath Krishna Murthy, David Solowiejczyk, Neeta L Vora, Kelly L Gilmore, Jessica L Giordano, Ronald J Wapner, Simone Sanna‐Cherchi, Alex Lyford, Angie C Jelin, Ali G Gharavi, Thomas Hays
发表日期
2024/3
期刊
Prenatal diagnosis
卷号
44
期号
3
页码范围
343-351
简介
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 …
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E Zhao, M Bomback, A Khan, S Krishna Murthy… - Prenatal diagnosis, 2024