ArticleAmerican journal of medical genetics. Part A2013
Confirmation of GRHL2 as the gene for the DFNA28 locus.
Article in American journal of medical genetics. Part A, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.Molecular biology reports · 2021Trial
- Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.PloS one · 2016Trial
- Review
- Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.Human molecular genetics · 2025Article
- From genomic discovery to application in age-related hearing loss: a global bibliometric and cross-ethnic analysis.Frontiers in aging neuroscience · 2025Article
- Comprehensive Treatment and Gene Analysis of a Male Patient with Follicular Occlusion Tetrad with Fordyce Granules.Clinical, cosmetic and investigational dermatology · 2024Article
- A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects.Medicina (Kaunas, Lithuania) · 2023Article
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- Clinical and genome-wide association analysis of chemoradiation-induced hearing loss in nasopharyngeal carcinoma.Human genetics · 2023Article
- Dysregulation of Grainyhead-like 3 expression causes widespread developmental defects.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- Advances in gene therapy hold promise for treating hereditary hearing loss.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Review
- Grainyhead-like 2 is required for morphological integrity of mouse embryonic stem cells and orderly formation of inner ear-like organoids.Frontiers in cell and developmental biology · 2023Article
- AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss.Human genetics · 2022Article
- miRNA-Based Regulation of Alternative RNA Splicing in Metazoans.International journal of molecular sciences · 2021Review
- NovelGenes · 2021Review
- NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.Human molecular genetics · 2021Article
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness.Molecular genetics & genomic medicine · 2020Article
- Interrogating the Grainyhead-like 2 (Grhl2) genomic locus identifies an enhancer element that regulates palatogenesis in mouse.Developmental biology · 2020Article
- Transcriptomic Analyses of Inner Ear Sensory Epithelia in Zebrafish.Anatomical record (Hoboken, N.J. : 2007) · 2020Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
More than 10 years ago, a c.1609_1610insC mutation in the grainyhead-like 2 (GRHL2) gene was identified in a large family with nonsyndromic sensorineural hearing loss, so far presenting the only evidence for GRHL2 being an autosomal-dominant deafness gene (DFNA28). Here, we report on a second large family, in which post-lingual hearing loss with a highly variable age of onset and progression segregated with a heterozygous non-classical splice site mutation in GRHL2. The c.1258-1G>A mutation disrupts the acceptor recognition sequence of intron 9, creating a new AG splice site, which is shifted by only one nucleotide in the 3' direction. cDNA analysis confirmed a p.Gly420Glufs*111 frameshift mutation in exon 10.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.