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Article

Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.

International journal of pediatric otorhinolaryngology - 1 Jun 2021

Yu Sha, Chen Wen-Xia, Zhang Yun-Fei, Chen Chao, Ni Yihua, Duan Bo, Wang Huijun, Xu Zheng-Min

Abstract excerpt

BACKGROUND: Biallelic mutations in LOXHD1 have been identified as the cause of DFNB77 (deafness, autosomal recessive 77). It is a new progressive, severe-to-profound, and late-onset nonsyndromic sensorineural hearing loss (NSHL), and is highly heterogeneous genetically and phenotypically. This study aimed to provide an additional three cases of DFNB77. METHODS: We presented three unrelated children diagnosed with...

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PMID: 33892339
DOI: 10.1016/j.ijporl.2021.110715

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