Replication of Missense OTOG Gene Variants in a Brazilian Patient with Menière’s Disease DOI Open Access
Giselle Bianco-Bortoletto, Geovana Almeida Carneiro, Helena Fabbri‐Scallet

и другие.

Genes, Год журнала: 2025, Номер 16(6), С. 654 - 654

Опубликована: Май 28, 2025

Ménière’s Disease (MD) is a chronic inner ear disorder defined by recurring episodes of vertigo, fluctuating sensorineural hearing loss, tinnitus, and/or fullness in the ear. Its prevalence varies region and ethnicity, with scarce epidemiological data Brazilian population. Although most MD cases are sporadic, familial (FMD) observed 5% to 20% European cases. Through exome sequencing, we have found rare missense variant OTOG gene individual probable ancestry (chr11:17599671C>T), which was previously reported Spanish cohort. Two additional heterozygous variants were same proband. Splice Site analysis showed that chr11:17599671C>T may lead substantial changes generating exonic cis regulatory elements, protein modelling revealed structural presence chr11:17599671C>T, chr11:17576581G>C, chr11:17594108C>T, predicted highly destabilize structure. The manuscript aims replicate genes cohort, main finding patient also has MD, supporting as frequently mutated MD.

Язык: Английский

Lmx1a is essential for marginal cell differentiation and stria vascularis formation DOI Creative Commons
Justine Renauld, Igor Y. Iskusnykh, Ebenezer N. Yamoah

и другие.

Frontiers in Cell and Developmental Biology, Год журнала: 2025, Номер 13

Опубликована: Март 5, 2025

The transcription factor Lmx1a is widely expressed during early inner ear development, and mice lacking expression exhibit fusion of cochlear vestibular hair cells fail to form the ductus reuniens endolymphatic sac. dreher (Lmx1a dr/dr ), a recessive null mutation, results in non-functional expression, which expands from outer sulcus stria vascularis Reissner's membrane. In absence Lmx1a, we observe lack proteins specific vascularis, such as BSND KCNQ1 marginal CD44 intermediate cells. Further analysis superficial epithelial cell layer at expected location shows that future migrate embryonic development but subsequently disappear. Using antibodies against pendrin (Slc26a4) knockout (KO) mice, an expansion across Moreover, no endocochlear potential observed. These findings highlight critical role particularly differentiation structures, recruitment pigment cells, essential for hearing balance.

Язык: Английский

Процитировано

2
Unlocking the signaling potential of GPI-anchored proteins through lipolytic cleavage DOI Creative Commons
Razvan Borza, Elisa Matas-Rico, Anastassis Perrakis

и другие.

Trends in Cell Biology, Год журнала: 2025, Номер unknown

Опубликована: Янв. 1, 2025

Язык: Английский

Процитировано

0
Different release modes of α-tectorin contribute to the development of the tectorial membrane DOI
Bernd Fritzsch, Ebenezer N. Yamoah

Developmental Cell, Год журнала: 2025, Номер 60(5), С. 665 - 666

Опубликована: Март 1, 2025

Язык: Английский

Процитировано

0
Replication of Missense OTOG Gene Variants in a Brazilian Patient with Menière’s Disease DOI Open Access
Giselle Bianco-Bortoletto, Geovana Almeida Carneiro, Helena Fabbri‐Scallet

и другие.

Genes, Год журнала: 2025, Номер 16(6), С. 654 - 654

Опубликована: Май 28, 2025

Ménière’s Disease (MD) is a chronic inner ear disorder defined by recurring episodes of vertigo, fluctuating sensorineural hearing loss, tinnitus, and/or fullness in the ear. Its prevalence varies region and ethnicity, with scarce epidemiological data Brazilian population. Although most MD cases are sporadic, familial (FMD) observed 5% to 20% European cases. Through exome sequencing, we have found rare missense variant OTOG gene individual probable ancestry (chr11:17599671C>T), which was previously reported Spanish cohort. Two additional heterozygous variants were same proband. Splice Site analysis showed that chr11:17599671C>T may lead substantial changes generating exonic cis regulatory elements, protein modelling revealed structural presence chr11:17599671C>T, chr11:17576581G>C, chr11:17594108C>T, predicted highly destabilize structure. The manuscript aims replicate genes cohort, main finding patient also has MD, supporting as frequently mutated MD.

Язык: Английский

Процитировано

0