Cracking the auditory genetic code: Part II. Syndromic hereditary hearing impairment***

Tseng, Chieh; Ak, Lalwani

doi:10.1016/s0196-0709(00)80058-7

Cited by 22 publications

(5 citation statements)

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“…Since Alström syndrome is caused by mutations in the ALMS1 gene, molecular genetic analysis must be employed in order to confirm the clinical diagnosis. 14. , 15.…”

Section: Discussionmentioning

confidence: 99%

Familial Alström syndrome: a rare cause of bilateral progressive hearing loss ✩✩Please cite this article as: Bahmad F Jr., Costa CS, Teixeira MS, Barros-Filho J, Viana LM, Marshall J. Familial Alström syndrome: a rare cause of bilateral progressive hearing loss. Braz J Otorhinolaryngol. 2014;99-104.,✩✩✩✩Study conducted at Faculdade de Ciências da Saúde, Universidade de Brasília, Brasília, DF, Brazil.

Bahmad

Costa

Teixeira

et al. 2014

Brazilian Journal of Otorhinolaryngology

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“…Since Alström syndrome is caused by mutations in the ALMS1 gene, molecular genetic analysis must be employed in order to confirm the clinical diagnosis. 14. , 15.…”

Section: Discussionmentioning

confidence: 99%

Familial Alström syndrome: a rare cause of bilateral progressive hearing loss ✩✩Please cite this article as: Bahmad F Jr., Costa CS, Teixeira MS, Barros-Filho J, Viana LM, Marshall J. Familial Alström syndrome: a rare cause of bilateral progressive hearing loss. Braz J Otorhinolaryngol. 2014;99-104.,✩✩✩✩Study conducted at Faculdade de Ciências da Saúde, Universidade de Brasília, Brasília, DF, Brazil.

Bahmad

Costa

Teixeira

et al. 2014

Brazilian Journal of Otorhinolaryngology

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“…A total of 124 causative genes have been identified for NSHL ( http://hereditaryhearingloss.org ). Approximately 30% of affected individuals with hearing loss are considered to be syndromic ( Tseng and Lalwani, 2000 ), whereas over 400 different syndromes involving hearing loss have been described ( Gettelfinger and Dahl, 2018 ).…”

Section: Introductionmentioning

confidence: 99%

Case Report: Exome Sequencing Identified Variants in Three Candidate Genes From Two Families With Hearing Loss, Onychodystrophy, and Epilepsy

Xiong

Zhang

et al. 2021

Front. Genet.

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A cohort of 542 individuals in 166 families with congenital hearing loss was recruited for whole-exome sequencing analysis. Here, we report the identification of three variants in five affected individuals in two unrelated families. In family 1, a nonsense mutation (c.1516C>T, p.R506*) in the ATP6V1B2 gene, a known causal allele for dominant deafness-onychodystrophy (DDOD), was identified in the mother and son with DDOD. However, a novel heterozygous variant (c.1590T>G, p.D530E) in TJP2, a known causal gene for hearing-loss, was also detected in the patients. In family 2, the same mutation (c.1516C>T, p.R506*) of ATP6V1B2 was detected from the father and daughter with DDOD. Furthermore, a novel heterozygous variant (c.733A>G, p.M245V) in the KIF11 gene was identified from the spouse with sensorineural hearing-loss and epilepsy. Notably, genotype-phenotype analysis of KIF11-associated disorders revealed that the p.M245V and two reported hearing-loss-associated variants (p.S235C and p.H244Y) are all mapped to a single β-sheet (Ser235∼M245) in the kinesin motor domain. Together, this is the first demonstration that ATP6V1B2-caused DDOD is an autosomal dominant genetic disease, compared to previous cases with de novo mutation. Our findings expand the variant spectrum of hearing-loss-associated genes and provide new insights on understanding of hearing-loss candidate genes ATP6V1B2, TJP2, and KIF11.

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“…Currently, more than 1,000 syndromes featuring hearing loss are recognised in the London Dysmorphology Database (Tseng and Lalwani 2000). Morbidity and mortality associated with such loss varies with the extent of involvement of non-auditory systems.…”

Section: Introductionmentioning

confidence: 99%

Atp6v1b2Plays Important Roles in the Early Development of Hearing, the Pectoral Fin, the Cardiovascular System, and the Swim Bladder of the Zebrafish, Supporting a Role for the Gene in Syndromic Hearing Loss

Yuan

Gao

Xin

et al. 2015

Preprint

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Background:The ATP6V1B2 gene plays a critical role in the auditory system, and a mutation in this gene is one genetic cause of DDOD syndrome (Dominant deafness-onychodystrophy syndrome, MIM 124480) and ZLS (Zimmermann-Laband syndrome, MIM 135500). However, whether and how ATP6V1B2 is involved in the development of other organs remains unknown. In the present study, we explored the effect of atp6v1b2 knockdown on early zebrafish development and verified that this gene plays a role in syndromic hearing loss.Methods: Three morpholinos (two splice-blocking, one translation-blocking) and the atp6v1b2 c.1516 C>T plasmid were used to knockdown or overexpress atp6v1b2 in zebrafish after microinjection of fertilised embryos. Control and atp6v1b2 embryo morphants were evaluated 6 days post-fertilisation in terms of motility, apoptosis, pectoral fin development, and hair cell number.Results: Atp6v1b2-knockdown zebrafish exhibited decreased body length, pericardial oedema, hair cell loss, a non-inflated swim bladder, and shorter pectoral fins; the first three phenotypes were also evident in fish overexpressing the gene. Conclusions:Atp6v1b2 plays important roles in the development of hearing, the pectoral fin, the cardiovascular system, and the swim bladder, thereby supporting a role for this gene in syndromic hearing loss.

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Cracking the auditory genetic code: Part II. Syndromic hereditary hearing impairment***

Cited by 22 publications

References 0 publications

Case Report: Exome Sequencing Identified Variants in Three Candidate Genes From Two Families With Hearing Loss, Onychodystrophy, and Epilepsy

Atp6v1b2Plays Important Roles in the Early Development of Hearing, the Pectoral Fin, the Cardiovascular System, and the Swim Bladder of the Zebrafish, Supporting a Role for the Gene in Syndromic Hearing Loss

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