Article

Haploinsufficiency of KPNA7 causes otosclerosis, likely due to the release of import inhibition of PTHrP and the reactivation of chondrogenesis in the globuli interossei

2025-08-26

Abstract excerpt

Otosclerosis is a genetic bone disorder restricted to the otic capsule and a common cause of conductive hearing loss with both familial and sporadic cases. To date, 14 genomic loci ( OTSC ) and four underlying OTSC genes ( MEPE , SERPINF1, FOXL1, SMARCA4) have been identified in autosomal dominant families. A combined genetic/genomics approach on five affected siblings of Northern European ancestry from the is...

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Literature Corpus work: e048853d-58f0-5bce-ae4c-5d72788d7fd9
DOI: 10.1101/2025.08.22.671726

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