Molecular Genetic Causes and Clinical Description of Branchio-Oto-renal Syndrome

Миронович, О. Л.; Bliznetz, E. A.; Маркова, Т Г; Alekseeva, N. N.; Golybeva, T. I.; Рыжкова, О. П.; Polyakov, A. V.

doi:10.1134/s1022795419050119

Cited by 6 publications

(9 citation statements)

References 23 publications

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“…A range of BOR symptoms were described, with 42 studies (66%) involving patients with renal manifestations 1,4,13,16,23,24,27–63 including renal hypoplasia 16,27,42,43,46,52,58–60 or agenesis, 16,29,33,35,41,55,57,61 hydronephrosis, 16,31,32,53,54 secondary arterial hypertension, 58 mesangial cell glomerulitis, 64 and renal failure of varying degrees 28,36,37,42,47,50,52,54,58 . In 53 of the 64 studies, authors reported patients with preauricular pits, tags, clefts, or sinuses 1,4,13,16,23–35,37–47,49–53,55–62,64–74 and in 47 studies, patients with branchial cleft abnormalities were described 1,4,13,16,23,24,27–32,34–49,52–54,56,57,59–63,65–69...…”

Section: Resultsmentioning

confidence: 99%

“…In the inner ear a variety of anomalies have been observed including cochlear hypoplasia 4,8,13,27–30,32,34,36,38–40,42–45,50,62,66–69,75–78 or dysplasia, 4,9,35,40,43,66,75,78 Mondini deformity, 1,28,35 hypoplastic 13,27,44,45,50,62,66,71 or abnormal 11,54,66,69,75,77,78 semicircular canals, abnormal 28,54,64,78 or dilated vestibules, 26,28,30,32,45 enlargement of the vestibular aqueduct, 9,25,26,28–32,34,35,38,64,75–77 common cavity deformity of the vestibule, 64 abnormalities of the internal auditory canal, 9,13,28,32,34,40,45,66,69,78 enlarged endolymphatic sacs and/or ducts, 4,34–36,45,75 cochlear nerve hypoplasia, 75 and facial nerve abnormalities 8,9,32,47,48,66,78 …”

Section: Resultsmentioning

confidence: 99%

“…In the middle ear, many studies reported fixed, 1,32,40,41,45,50 hypoplastic, 13,39,46,66 malformed, 4,8,11,13,28–31,34,41,42,45,47,48,50,54,64,66–69,71,75,78 or displaced ossicles 27,28,31,32,39,43,47,48,67,70 . In one study, three patients were found to have a massive ossicular chain with reduced middle ear space 44 .…”

Section: Resultsmentioning

confidence: 99%

“…External auditory canal anomalies and ankylotia 4,16,45,53,63,68,69,71 were reported alongside abnormal external ear appearances, 16,40,44,56,63,68,71 including specific descriptions of cup‐shaped pinnae, 1,27–29,35,41–43,45,49,53,54,57,64 microtia, 29,42,50,62,68 “lop,” 4,30,52,55,69 low‐set, 35,55,57 or protuberant ears 34,39 …”

Section: Resultsmentioning

confidence: 99%

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Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review

Biggs

Crundwell

Metcalfe

et al. 2022

Laryngoscope Investig Oto

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Objective Establish anatomical considerations, audiological outcomes, and optimal management in patients with branchiootic/branchiootorenal syndrome (BO/BOR). Methods Databases reviewed: Medline, Pubmed, Embase, Web of Science, Cochrane Collection, and http://clinicaltrials.gov. Clinical or radiological studies of patients with BOR syndrome describing either the audiological profile or anatomical changes were included. Articles in which BOR syndrome was associated with other syndromes, and those that were focused only on general and genetic aspects of BOR syndrome were excluded. Articles were assessed using Oxford Centre for Evidence‐Based Medicine (OCEBM) grading system and the Brazzelli risk of bias tool for nonrandomized studies. Results Searches identified 379 articles. Of these, 64 studies met the inclusion criteria, reporting outcomes in 482 patients from at least 95 families. In 308 patients, hearing loss was categorized as sensorineural (29%), conductive (20%), and mixed (51%). Hearing outcomes were variable in terms of onset, pattern, and severity; ranging from mild to profound deafness. One hundred sixty‐nine patients presented with inner ear anomalies, 145 had middle, and 151 had external ear abnormalities. In 44 studies, 58 ear operations were described. Mixed outcomes were reported in patients managed with hearing aids or middle ear surgery; however, successful cochlear implantation was described in all five cases. Conclusion The anatomical and audiological profiles of patients with BO/BOR are variable. A range of surgical procedures were described, however lacked objective outcome measures. Given the range of anatomical variants, management decisions should be made on an individual basis including full audiological and radiological assessment. Level of evidence NA.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 2 more Smart Citations

Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review

Biggs

Crundwell

Metcalfe

et al. 2022

Laryngoscope Investig Oto

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“…Branchio-Oto Renal Syndrome Branchio-Oto renal (BOR) syndrome is an autosomal dominant genetic disorder with various combinations of abnormalities in kidney, brachial arches, and external/inner ear [25]. The kidney abnormalities differ among patients.…”

Section: Renal Coloboma Syndromementioning

confidence: 99%

Next-Generation Sequencing-Based Genetic Diagnostic Strategies of Inherited Kidney Diseases

Zhang

Gao

et al. 2021

Kidney Dis

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Background: At least 10% of adults and most of the children who receive renal replacement therapy have inherited kidney diseases. These disorders substantially decrease their life quality and have a large effect on the health-care system. Multisystem complications, with typical challenges for rare disorders, including variable phenotypes and fragmented clinical and biological data, make genetic diagnosis of inherited kidney disorders difficult. In current clinical practice, genetic diagnosis is important for clinical management, estimating disease development, and applying personal treatment for patients. Summary: Inherited kidney diseases comprise hundreds of different disorders. Here, we have summarized various monogenic kidney disorders. These disorders are caused by mutations in genes coding for a wide range of proteins including receptors, channels/transporters, enzymes, transcription factors, and structural components that might also have a role in extrarenal organs (bone, eyes, brain, skin, ear, etc.). With the development of next-generation sequencing technologies, genetic testing and analysis become more accessible, promoting our understanding of the pathophysiologic mechanisms of inherited kidney diseases. However, challenges exist in interpreting the significance of genetic variants and translating them to guide clinical managements. Alport syndrome is chosen as an example to introduce the practical application of genetic testing and diagnosis on inherited kidney diseases, considering its clinical features, genetic backgrounds, and genetic testing for making a genetic diagnosis. Key Messages: Recent advances in genomics have highlighted the complexity of Mendelian disorders, which is due to allelic heterogeneity (distinct mutations in the same gene produce distinct phenotypes), locus heterogeneity (mutations in distinct genes result in similar phenotypes), reduced penetrance, variable expressivity, modifier genes, and/or environmental factors. Implementation of precision medicine in clinical nephrology can improve the clinical diagnostic rate and treatment efficiency of kidney diseases, which requires a good understanding of genetics for nephrologists.

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Genetic etiology of hearing loss in Russia

Posukh

2021

Hum Genet

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Molecular Genetic Causes and Clinical Description of Branchio-Oto-renal Syndrome

Cited by 6 publications

References 23 publications

Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review

Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review

Next-Generation Sequencing-Based Genetic Diagnostic Strategies of Inherited Kidney Diseases

Genetic etiology of hearing loss in Russia

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