A requirement for Fgfr2 in middle ear development.
A requirement for Fgfr2 in middle ear development.
复制标题
中耳发育对 Fgfr2 的要求。
DOI：
10.1002/dvg.23252
复制
发表时间：
2019
期刊：
影响因子：
--
通讯作者：
Merrill,AmyE
中科院分区：
文献类型：
--
作者：
Rigueur,Diana;Roberts,RyanR;Bobzin,Lauren;Merrill,AmyE
The skeletal structure of the mammalian middle ear, which is composed of three endochondral ossicles suspended within a membranous air‐filled capsule, plays a critical role in conducting sound. Gene mutations that alter skeletal development in the middle ear result in auditory impairment. Mutations in fibroblast growth factor receptor 2 (FGFR2), an important regulator of endochondral and intramembranous bone formation, cause a spectrum of congenital skeletal disorders featuring conductive hearing loss. Although the middle ear malformations in multipleFGFR2gain‐of‐function disorders are clinically characterized, those in theFGFR2loss‐of‐function disorder lacrimo‐auriculo‐dento‐digital (LADD) syndrome are relatively undescribed. To better understand conductive hearing loss in LADD, we examined the middle ear skeleton of mice with conditional loss ofFgfr2. We find that decreased auditory function inFgfr2mutant mice correlates with hypoplasia of the auditory bulla and ectopic bone growth at sites of tendon/ligament attachment. We show that ectopic bone associated with the intra‐articular ligaments of the incudomalleal joint is derived from Scx‐expressing cells and preceded by decreased expression of the joint progenitor markerGdf5. Together, these results identify a role forFgfr2in development of the middle ear skeletal tissues and suggest potential causes for conductive hearing loss in LADD syndrome.
