ArticleHuman genetics2018
De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness.
Article in Human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 48 citations in OpenAlex.
- Case report of a novelJournal of otology · 2025Article
- Human organoids for rapid validation of gene variants linked to cochlear malformations.Human genetics · 2025Article
- Allochrony in Atlantic Lumpfish: Genomic and Otolith Shape Divergence Between Spring and Autumn Spawners.Ecology and evolution · 2025Article
- A dominant missense variant within LMBR1 related to equine polydactyly.Communications biology · 2024Article
- Human Organoids for Rapid Validation of Gene Variants Linked to Cochlear Malformations.Research square · 2024Article
- The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.Prenatal diagnosis · 2024Article
- Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.Frontiers in endocrinology · 2024Review
- GREB1L overexpression is associated with good clinical outcomes in breast cancer.European journal of medical research · 2023Article
- Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.Kidney international reports · 2023Article
- Rare variant enrichment analysis supportsHGG advances · 2023Article
- A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3.Orphanet journal of rare diseases · 2022Article
- A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana.BMC medical genomics · 2022Article
- A genotype-first analysis in a cohort of Mullerian anomaly.Journal of human genetics · 2022Article
- Major Contribution of GREB1L Alterations to Severe Inner Ear Malformation Largely in a Non-mendelian Fashion.Clinical and experimental otorhinolaryngology · 2022Article
- GREB1L overexpression correlates with prognosis and immune cell infiltration in lung adenocarcinoma.Scientific reports · 2021Article
- Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.Genes · 2021Article
- Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.The Journal of clinical investigation · 2020Article
- Article
- Use of Zebrafish in Drug Discovery Toxicology.Chemical research in toxicology · 2020Review
- A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
Abstract
Congenital inner ear malformations affecting both the osseous and membranous labyrinth can have a devastating impact on hearing and language development. With the exception of an enlarged vestibular aqueduct, non-syndromic inner ear malformations are rare, and their underlying molecular biology has thus far remained understudied. To identify molecular factors that might be important in the developing inner ear, we adopted a family-based trio exome sequencing approach in young unrelated subjects with severe inner ear malformations. We identified two previously unreported de novo loss-of-function variants in GREB1L [c.4368G>T;p.(Glu1410fs) and c.982C>T;p.(Arg328*)] in two affected subjects with absent cochleae and eighth cranial nerve malformations. The cochlear aplasia in these affected subjects suggests that a developmental arrest or problem at a very early stage of inner ear development exists, e.g., during the otic pit formation. Craniofacial Greb1l RNA expression peaks in mice during this time frame (E8.5). It also peaks in the developing inner ear during E13-E16, after which it decreases in adulthood. The crucial function of Greb1l in craniofacial development is also evidenced in knockout mice, which develop severe craniofacial abnormalities. In addition, we show that Greb1l
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