Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies

Abstract

Inner ear anomalies diagnosed using a radiological study are detected in almost 30% of cases with congenital or prelingual-onset sensorineural hearing loss. Inner ear anomalies can be isolated or occur along with a part of a syndrome involving other systems. Although astonishing progress has been made in research aimed at revealing the genetic causes of hearing loss in the past few decades, only a few genes have been linked to inner ear anomalies. The aim of this review is to discuss the known genetic causes of inner ear anomalies. Identifying the genetic causes of inner ear anomalies is important for guiding clinical care that includes empowered reproductive decisions provided to the affected individuals. Furthermore, understanding the molecular underpinnings of the development of the inner ear in humans is important to develop novel treatment strategies for people with hearing loss.

Imaging of inner ear malformations: a primer for radiologists

“…The embryological development of the IE begins with the focal thickening of the ectoderm (otic placode) and proceeds via multiple stages [5][6][7] from 3rd to 24th gestational week (gw) (Fig. 2):…”

“…Thin-slice (0.4-0.8-mm thickness) heavily T2-weighted high-resolution 3D fast gradient echo sequences can provide submillimeter assessment of the structure of the fluid-filled inner ear. These sequences are particularly dependent on high gradient amplitude and slew rates and has a cisternographic effect showing very high contrast between liquor and surrounding structures (nerves, vessels, and bone) [6]. The acquired 3D images can be re-formatted in arbitrary orientation because of the sub-millimetric isotropic resolution.…”

Research progress of the transcription factor Brn4 (Review)

“…DFN3 is the most common type of X-chromosome-linked hereditary hearing loss (31). More than two decades ago, Brn4 was found to be a specific pathogenic factor in this disease (32)(33)(34). The pathogenic molecular mechanism of DFN3 simultaneously involves the sound conduction and sensory system and is based on structural changes in the Brn4 protein.…”

In Accordance With Labour Law No. 4857 Part Time Employment Permit Due to Childbirth and Adoption

“…Uygulamadaki yarım çalışma izin hakkı talebinin ispat koşulu olarak işçi tarafından işverene yazılı bildiriminin ötesinde; çalışma hayatındaki düzen ve dürüstlük kuralının işlerliği bakımından, şekil ve süre koşullarına bağlı olarak bildirim ödevinin mevzuatta düzenlenmesi yerinde bir tasarruf olacaktır 68 .…”

“…Uygulamadaki yarım çalışma izin hakkı talebinin ispat koşulu olarak işçi tarafından işverene yazılı bildiriminin ötesinde; çalışma hayatındaki düzen ve dürüstlük kuralının işlerliği bakımından, şekil ve süre koşullarına bağlı olarak bildirim ödevinin mevzuatta düzenlenmesi yerinde bir tasarruf olacaktır 68 . Doğum yapan kadın işçi ile üç yaşını doldurmamış çocuğu evlat edinen kadın veya erkek işçi, çocuğun hayatta olması koşuluyla yarım çalışma iznini kullanabilirken; (mevzuattaki istisnalar dışında) ebeveynlerden biri, eşi çalışmamak kaydıyla kısmi süreli çalışma talebinde bulunabilir (Yönetmelik md.…”