Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease

Escalera‐Balsera, Alba; Roman‐Naranjo, Pablo; Lopez-Escamez, José A.

doi:10.3390/genes11121414

Cited by 16 publications

(15 citation statements)

References 58 publications

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“…A recent study found that non-coding variants in CRKL were significantly associated with risk for conotruncal heart defects in individuals with 22q11.2DS (12). Many genes have been related to hereditary non-syndromic hearing loss and Ménière's disease (13)(14)(15)(16). It is therefore possible that rare variants in these genes could modify audiovestibular phenotype by interacting with TBX1 in 22q11.2DS.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Ménière's Disease-Like Symptoms in 22q11.2 Deletion Syndrome

et al. 2021

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The 22q11.2 deletion syndrome (22q11.2DS), caused by a microdeletion on the long arm of chromosome 22, is characterized by congenital heart disease, hypoparathyroidism, immunodeficiency, developmental delay, and velopharyngeal insufficiency. Anatomic malformations of the middle and inner ears are frequently present, leading to high prevalence of hearing impairment. We present a first case of 22q11.2DS showing fluctuating hearing loss with recurrent vertigo attacks, resembling Ménière's disease. A 38-year-old male known to have 22q11.2DS developed recurrent vertigo, tinnitus, and fluctuating hearing loss in the left ear during a 10-year follow-up period. During vertigo attack, he had spontaneous left-beating nystagmus with downbeat components, but bithermal caloric and video head impulse tests showed normal vestibulo-ocular reflex functions. Sequential pure tone audiograms demonstrated fluctuating sensorineural hearing loss (SNHL) in both ears, which finally progressed to permanent hearing loss in the left ear. Computed tomography imaging of the temporal bone exhibited bilaterally malformed lateral semicircular canals, and delayed 3D-FLAIR sequences revealed cochlear endolymphatic hydrops with dilation of the scala media in the left ear. This case shows that acute vertigo with SNHL can be one of the audiovestibular presentations in 22q11.2DS caused by disturbance of endolymphatic flow.

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Section: Discussionmentioning

confidence: 99%

Case Report: Ménière's Disease-Like Symptoms in 22q11.2 Deletion Syndrome

et al. 2021

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“…Familial aggregation in MD has been described in 9-10% of European descendant population, showing an autosomal dominant inheritance pattern in most families. 1 Despite familial MD displays extensive genetic heterogeneity, 2 we recently observed multiple families carrying rare variants in genes encoding proteins involved in the structure of the hair cells stereocilia and their attachment to the tectorial membrane (TM): an enrichment of rare missense variants in the OTOG gene was found in 15 unrelated MD families 3 and other 9 families showed rare heterozygous variants in the MYO7A gene. 4 In this study, we have performed bioinformatic analyses in exome sequencing data obtained from patients of 77 families with MD to better understand the genetic underpinnings of the disease.…”

Section: Dear Editormentioning

confidence: 99%

“…Pablo Roman-Naranjo 1,2,3,4 Alberto M. Parra-Perez 1,3,4 Alba Escalera-Balsera 1,2,3 Andres Soto-Varela 5,6 Alvaro Gallego-Martinez 1,2,3 Ismael Aran 7 Nicolas Perez-Fernandez 8 David Bächinger 9 Andreas H. Eckhard 9 Rocio Gonzalez-Aguado 10 Lidia Frejo 1,2,3 Jose A. Lopez-Escamez 1,2,3,4…”

Section: A C K N O W L E D G E M E N T Smentioning

confidence: 99%

Defective α‐tectorin may involve tectorial membrane in familial Meniere disease

Roman‐Naranjo

Parra-Perez

Escalera‐Balsera

et al. 2022

Clinical & Translational Med

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“…Familial aggregation in MD has been described in 9-10% of European descendant population 19 . Most families show an autosomal dominant inheritance pattern and rare missense variants in several genes have been described in unrelated MD families 20,21 . Nevertheless, none of these variants has been reported in other MD families, supporting genetic heterogeneity in familial MD.…”

Section: Introductionmentioning

confidence: 99%

Ultrarare missense and frameshift variants in the TECTA gene may involve tectorial membrane in familial Meniere disease

Roman‐Naranjo

Parra-Perez

Escalera‐Balsera

et al. 2022

Preprint

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BackgroundMeniere’s disease (MD) is an inner ear disease defined by episodes of vertigo associated with sensorineural hearing loss initially affecting low- to medium frequencies, tinnitus, and aural fullness. Familial aggregation has been reported in 9-10% of MD patients showing, mostly, an autosomal dominant inheritance pattern with incomplete penetrance. However, familial MD is a genetically heterogeneous disorder and other inheritance patterns have been recently proposed, such as recessive and digenic inheritance involving rare variants in OTOG and MYO7A genes, respectively. In this study, a familial MD cohort was recruited to identify new candidate genes.MethodsExome sequencing was performed in 99 individuals (from 77 families) diagnosed with MD according to the diagnostic criteria defined by the Barany Society. Candidate variants were classified based on the ACMG/AMP guidelines, and their effects were evaluated by protein modeling. Standard audiometric evaluations were retrieved, and a case report was made of each family to assess the genotype-phenotype correlations.ResultsThe TECTA gene, which encodes α-tectorin, was highlighted as a candidate for four multicase MD families carrying rare missense heterozygous variants and a short deletion in this gene. Variants in α-tectorin were also found in two additional families with one MD patient and relatives with partial syndromes carrying a missense heterozygous variant and a short deletion. According to the predicted protein model, these variants could affect the stability of α-tectorin.ConclusionsSeveral MD families were identified carrying rare variants and deletions in the TECTA gene, which encodes one of the main proteins of the tectorial membrane (TM). The TM is an extracellular matrix localized over the sensory epithelium mediating the mechanical stimulation of cochlear hair cells, a critical role in the process of hearing. Modifications on the TM stability and the micromechanics involved in the sound-evoked motion of stereocilia might be involved in familial MD.

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Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease

Cited by 16 publications

References 58 publications

Case Report: Ménière's Disease-Like Symptoms in 22q11.2 Deletion Syndrome

Case Report: Ménière's Disease-Like Symptoms in 22q11.2 Deletion Syndrome

Defective α‐tectorin may involve tectorial membrane in familial Meniere disease

Ultrarare missense and frameshift variants in the TECTA gene may involve tectorial membrane in familial Meniere disease

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