ArticleFrontiers in genetics2019
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome.
Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 17 citations in OpenAlex.
- Review
- Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants.BMC medical genomics · 2024Article
- A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency.Journal of molecular neuroscience : MN · 2023Article
- Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.BMC medical genomics · 2022Article
- One Genetic Defect and Two Related Entities in Monozygotic Twins: Otosclerosis and Superior Semicircular Canal Near Dehiscence Syndrome.Journal of audiology & otology · 2022Article
- Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.Scientific reports · 2020Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
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Abstract
We report on a 34-year-old woman and her mother who both have clinical features suggestive for otofaciocervical syndrome (OTFCS), a disorder characterized by a combination of facial dysmorphisms, ear abnormalities with hearing loss, and shoulder girdle anomalies. OTFCS presents overlapping features with branchiootorenal spectrum disorders, including branchiootorenal syndrome and branchiootic syndrome. These disorders have been described as clinically distinct entities, but molecular studies have shown that all the causative genes belong to the Pax-Six-Eya-Dach network (PSEDN). So far, the genetic diagnosis of OTFCS has been performed only in very few cases and involves two genes, EYA1 and PAX1; thus, it is likely that other genes have still to be identified. In the present patient, array CGH analysis showed a 3.7-Mb deletion in 6q23; a smaller 1.9-Mb deletion in the same region was detected in her mother. The minimal overlapping region harbors the
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