Localization of the gene for branchiootorenal syndrome to chromosome 8q
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Cited by (58)
Novel EYA1 variants causing Branchio-oto-renal syndrome
2017, International Journal of Pediatric OtorhinolaryngologyCitation Excerpt :Clinical evaluation is complicated due to the presence of reduced penetrance and variable expressivity [17]. The responsible locus was first mapped to chromosome 8q13 [18–23]. Eventually mutations and deletions within the EYA1 gene were identified as causal variants in the pathogenesis of BOR syndrome [24].
Communication routes between intracranial spaces and inner ear: function, pathophysiologic importance and relations with inner ear diseases
2009, American Journal of Otolaryngology - Head and Neck Medicine and SurgeryCitation Excerpt :Branchio-oto-renal syndrome is an autosomal dominant disorder and is characterized by profound deafness, lop ear deformity, preauricular pits, branchial cleft sinus tracts, and renal anomalies. The defective gene has been localized to chromosome 8q by family linkage studies [74]. A short and straight VA, and thus a caudal located endolymphatic sac, might predispose for Meniere's disease [75].
A hereditary case of thyroglossal duct cyst
2009, Annales d'Oto-Laryngologie et de Chirurgie Cervico-FacialeThe Branchio-oto-renal Syndrome
2009, Genetic Diseases of the KidneyNovel EYA1 mutation in a Korean branchio-oto-renal syndrome family
2007, International Journal of Pediatric OtorhinolaryngologyCitation Excerpt :The hearing loss can be sensorineural, conductive or mixed due to an otic anomaly of the outer, middle or inner ear. In the early 1990s, the gene responsible for BOR syndrome was mapped to the chromosome band 8q12-22 (OMIM 601653) [7–9]. Positional cloning was used to identify the causative human homologue of the Drosophila ‘eye absent’ gene (EYA1) [10].
Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome
2005, International Journal of Pediatric Otorhinolaryngology