Genetics of Inner Ear Malformations: A Review

Brotto, Davide; Sorrentino, Flavia; Cenedese, Roberta; Avato, Irene; Bovo, Roberto; Trevisi, Patrizia; Manara, Renzo

doi:10.3390/audiolres11040047

Cited by 13 publications

(10 citation statements)

References 69 publications

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“…For example, CND has been reported in patients with CHARGE, VACTERL, and Coffin‐Siris syndromes, 51‐53 which are hereditary and associated with USNHL 54 . Furthermore, multiple genes have been documented involved in inner ear malformations in syndromic and nonsyndromic SNHL 55,56 . Therefore, considering the aggregation of patients with USNHL in multiplex families and the potential association between USNHL and genetics‐related CND and inner ear malformations, it is inferred that the genetic component of USNHL may be higher than what was demonstrated in this study.…”

Section: Discussionmentioning

confidence: 99%

Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss

Lee

Lin

Chiang

et al. 2023

Otolaryngol.--head neck surg.

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ObjectiveUnilateral sensorineural hearing loss (USNHL) is a condition commonly encountered in otolaryngology clinics. However, its molecular pathogenesis remains unclear. This study aimed to investigate the genetic underpinnings of childhood USNHL and analyze the associated audiological features.Study DesignRetrospective analysis of a prospectively recruited cohort.SettingTertiary referral center.MethodsWe enrolled 38 children with USNHL between January 1, 2018, and December 31, 2021, and performed physical, audiological, imaging, and congenital cytomegalovirus (cCMV) examinations as well as genetic testing using next‐generation sequencing (NGS) targeting 30 deafness genes. The audiological results were compared across different etiologies.ResultsCausative genetic variants were identified in 8 (21.1%) patients, including 5 with GJB2 variants, 2 with PAX3 variants, and 1 with the EDNRB variant. GJB2 variants were found to be associated with mild‐to‐moderate USNHL in various audiogram configurations, whereas PAX3 and EDNRB variants were associated with profound USNHL in flat audiogram configurations. In addition, whole‐genome sequencing and extended NGS targeting 213 deafness genes were performed in 2 multiplex families compatible with autosomal recessive inheritance; yet no definite causative variants were identified. Cochlear nerve deficiency and cCMV infection were observed in 9 and 2, respectively, patients without definite genetic diagnoses.ConclusionGenetic underpinnings can contribute to approximately 20% of childhood USNHL, and different genotypes are associated with various audiological features. These findings highlight the utility of genetic examinations in guiding the diagnosis, counseling, and treatment of USNHL in children.

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Section: Discussionmentioning

confidence: 99%

Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss

Lee

Lin

Chiang

et al. 2023

Otolaryngol.--head neck surg.

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“…13 Los genes FGF3 y HOXA 1 están asociados con aplasia laberíntica, que se produce durante la tercera semana de gestación, sin embargo, también se relacionan con otros síndromes, como el de aplasia laberíntica, microtia y microdoncia (LAMM), y síndrome de mutación HOXA1, caracterizado por aplasia de la carótida bilateral, retraso en el crecimiento y alteraciones oculares. 15 Lo anterior podría indicar en el caso de nuestra paciente un tipo de herencia poligénica, dada la afección a nivel articular y cardíaco en conjunto con las características clínicas clásicas del síndrome.…”

Section: Discussionunclassified

Síndrome de Wildervanck: reporte de un caso clínico

2023

Arch Argent Pediat

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El síndrome de Wildervanck (cérvico-óculo-acústico) es una patología muy rara, caracterizada por la tríada clásica de fusión de vértebras cervicales o anomalía de Klippel-Feil, síndrome de Duane (paresia del VI par craneal) e hipoacusia. Se han descrito, además, otras afecciones a nivel vascular, cardíaco y musculoesquelético.En este caso clínico, describimos a una paciente que cumple la tríada cardinal, además de presentar datos clínicos adicionales que no han sido reportados con anterioridad, lo cual contribuye a la ampliación del fenotipo de la enfermedad. Asimismo, realizamos una revisión de la literatura respecto a este síndrome.

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“…In a recent study, more than 70% of patients demonstrated vestibular symptoms, of which 17% had bilateral vestibular areflexia on caloric stimulation while 10% showed no signs of vestibular dysfunction on caloric stimulation (25). In Pendred's syndrome, associated with mutations of the SLC26A4 gene, the incomplete partition type II constitutes a characterizing element of the malformative spectrum, together with the presence of an enlarged vestibular aqueduct and thyroid goiter (27).…”

Section: Incomplete Partition Type IImentioning

confidence: 99%

Vestibular anomalies and dysfunctions in children with inner ear malformations: A narrative review

Brotto

Ariano²,

Sozzi³

et al. 2023

Front. Pediatr.

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About 20% of children with congenital hearing loss present malformations of the inner ear. In the past few years much has been understood about the morphology and function of the anterior part of the labyrinth, since hearing loss may have a dramatic effect on the overall development of a child. Nowadays, for most of them, a chance for hearing rehabilitation is available, making hearing loss a treatable condition. The anomalies range from the lack of development of the whole inner ear to specific anomalies of isolated structures. Despite the frequent concomitant involvement of the posterior part of the labyrinth, this part of the inner ear is frequently neglected while discussing its morphology and dysfunction. Even though vestibular and balance function/dysfunction may have a significant impact on the global development of children, very little is known about these specific disorders in patients with inner ear malformations. The aim of this review is to summarize the available literature about vestibular anomalies and dysfunctions in children with inner ear malformations, discussing what is currently known about the topic.

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Genetics of Inner Ear Malformations: A Review

Cited by 13 publications

References 69 publications

Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss

Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss

Síndrome de Wildervanck: reporte de un caso clínico

Vestibular anomalies and dysfunctions in children with inner ear malformations: A narrative review

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