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Premium Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta‐analysis
Chen Anhai,
Song Jian,
Acke Frederic R. E.,
Mei Lingyun,
Cai Xinzhang,
Feng Yong,
He Chufeng
Publication year2021
Publication title
clinical genetics
Resource typeJournals
PublisherBlackwell Publishing Ltd
Abstract Branchiootorenal spectrum disorder (BORSD) is a group of rare autosomal dominant entities characterized by branchiogenic malformations, hearing loss (HL) and renal anomalies. It comprises branchiootorenal syndrome and branchiootic syndrome, distinguished by the presence or absence of renal abnormalities. Pathogenic variants have been discovered in the following genes: EYA1 , SIX5 , SIX1 and SALL1 . As the otological phenotype in BORSD is inconsistently reported, we performed a systematic review to provide an up‐to‐date overview, correlated with the genotype. Forty publications were included, describing 295 individual patients. HL was diagnosed in 95%, usually bilateral and mixed‐type, and differed among the different genes involved. Mixed moderate‐to‐severe HL was the predominant finding in patients with EYA1 involvement, regardless of the presence of renal abnormalities. The sensorineural HL of profound severity was more prevalent in patients with SIX1 mutations. No significant differences among different mutation types or location within the genes could be observed. Structural otological manifestations, ranging from periauricular to inner ear anomalies, were common in both genes. Especially periauricular anomalies were more common and more severe in EYA1 . In summary, otological differences among the different genes involved in BORSD are observed, so the molecular analysis is strongly advised.
Subject(s)audiology , biology , gene , genetic heterogeneity , genetics , genotype , hearing loss , medicine , meta analysis , phenotype , sensorineural hearing loss
SCImago Journal Rank1.543

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