Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

  1. Bahena, Paulina
  2. Daftarian, Narsis
  3. Maroofian, Reza
  4. Linares, Paola
  5. Villalobos, Daniel
  6. Mirrahimi, Mehraban
  7. Rad, Aboulfazl
  8. Doll, Julia
  9. Hofrichter, Michaela A. H.
  10. Koparir, Asuman
  11. Röder, Tabea
  12. Han, Seungbin
  13. Sabbaghi, Hamideh
  14. Ahmadieh, Hamid
  15. Behboudi, Hassan
  16. Villanueva-Mendoza, Cristina
  17. Cortés-Gonzalez, Vianney
  18. Zamora-Ortiz, Rocio
  19. Kohl, Susanne
  20. Kuehlewein, Laura
  21. Darvish, Hossein
  22. Alehabib, Elham
  23. Arenas-Sordo, Maria de la Luz
  24. Suri, Fatemeh
  25. Vona, Barbara
  26. Haaf, Thomas ORCID logo

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1000 Titel
  • Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
1000 Autor/in
  1. Bahena, Paulina |
  2. Daftarian, Narsis |
  3. Maroofian, Reza |
  4. Linares, Paola |
  5. Villalobos, Daniel |
  6. Mirrahimi, Mehraban |
  7. Rad, Aboulfazl |
  8. Doll, Julia |
  9. Hofrichter, Michaela A. H. |
  10. Koparir, Asuman |
  11. Röder, Tabea |
  12. Han, Seungbin |
  13. Sabbaghi, Hamideh |
  14. Ahmadieh, Hamid |
  15. Behboudi, Hassan |
  16. Villanueva-Mendoza, Cristina |
  17. Cortés-Gonzalez, Vianney |
  18. Zamora-Ortiz, Rocio |
  19. Kohl, Susanne |
  20. Kuehlewein, Laura |
  21. Darvish, Hossein |
  22. Alehabib, Elham |
  23. Arenas-Sordo, Maria de la Luz |
  24. Suri, Fatemeh |
  25. Vona, Barbara |
  26. Haaf, Thomas |
1000 Erscheinungsjahr 2021
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2021-06-20
1000 Erschienen in
1000 Quellenangabe
  • 141(3-4):785-803
1000 Copyrightjahr
  • 2021
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1007/s00439-021-02303-1 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9035000/ |
1000 Publikationsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Usher syndrome, the most prevalent cause of combined hereditary vision and hearing impairment, is clinically and genetically heterogeneous. Moreover, several conditions with phenotypes overlapping Usher syndrome have been described. This makes the molecular diagnosis of hereditary deaf-blindness challenging. Here, we performed exome sequencing and analysis on 7 Mexican and 52 Iranian probands with combined retinal degeneration and hearing impairment (without intellectual disability). Clinical assessment involved ophthalmological examination and hearing loss questionnaire. Usher syndrome, most frequently due to biallelic variants in MYO7A (USH1B in 16 probands), USH2A (17 probands), and ADGRV1 (USH2C in 7 probands), was diagnosed in 44 of 59 (75%) unrelated probands. Almost half of the identified variants were novel. Nine of 59 (15%) probands displayed other genetic entities with dual sensory impairment, including Alström syndrome (3 patients), cone-rod dystrophy and hearing loss 1 (2 probands), and Heimler syndrome (1 patient). Unexpected findings included one proband each with Scheie syndrome, coenzyme Q10 deficiency, and pseudoxanthoma elasticum. In four probands, including three Usher cases, dual sensory impairment was either modified/aggravated or caused by variants in distinct genes associated with retinal degeneration and/or hearing loss. The overall diagnostic yield of whole exome analysis in our deaf-blind cohort was 92%. Two (3%) probands were partially solved and only 3 (5%) remained without any molecular diagnosis. In many cases, the molecular diagnosis is important to guide genetic counseling, to support prognostic outcomes and decisions with currently available and evolving treatment modalities.
1000 Sacherschließung
lokal Mutation [MeSH]
lokal Humans [MeSH]
lokal Molecular Medicine
lokal Iran [MeSH]
lokal Original Investigation
lokal Pedigree [MeSH]
lokal Usher Syndromes/diagnosis [MeSH]
lokal Metabolic Diseases
lokal Usher Syndromes/genetics [MeSH]
lokal Gene Function
lokal Phenotype [MeSH]
lokal The Molecular Genetics of Hearing and Deafness
lokal Retinal Degeneration/genetics [MeSH]
lokal Human Genetics
1000 Liste der Beteiligten
  1. https://frl.publisso.de/adhoc/uri/QmFoZW5hLCBQYXVsaW5h|https://frl.publisso.de/adhoc/uri/RGFmdGFyaWFuLCBOYXJzaXM=|https://frl.publisso.de/adhoc/uri/TWFyb29maWFuLCBSZXph|https://frl.publisso.de/adhoc/uri/TGluYXJlcywgUGFvbGE=|https://frl.publisso.de/adhoc/uri/VmlsbGFsb2JvcywgRGFuaWVs|https://frl.publisso.de/adhoc/uri/TWlycmFoaW1pLCBNZWhyYWJhbg==|https://frl.publisso.de/adhoc/uri/UmFkLCBBYm91bGZhemw=|https://frl.publisso.de/adhoc/uri/RG9sbCwgSnVsaWE=|https://frl.publisso.de/adhoc/uri/SG9mcmljaHRlciwgTWljaGFlbGEgQS4gSC4=|https://frl.publisso.de/adhoc/uri/S29wYXJpciwgQXN1bWFu|https://frl.publisso.de/adhoc/uri/UsO2ZGVyLCBUYWJlYQ==|https://frl.publisso.de/adhoc/uri/SGFuLCBTZXVuZ2Jpbg==|https://frl.publisso.de/adhoc/uri/U2FiYmFnaGksIEhhbWlkZWg=|https://frl.publisso.de/adhoc/uri/QWhtYWRpZWgsIEhhbWlk|https://frl.publisso.de/adhoc/uri/QmVoYm91ZGksIEhhc3Nhbg==|https://frl.publisso.de/adhoc/uri/VmlsbGFudWV2YS1NZW5kb3phLCBDcmlzdGluYQ==|https://frl.publisso.de/adhoc/uri/Q29ydMOpcy1Hb256YWxleiwgVmlhbm5leQ==|https://frl.publisso.de/adhoc/uri/WmFtb3JhLU9ydGl6LCBSb2Npbw==|https://frl.publisso.de/adhoc/uri/S29obCwgU3VzYW5uZQ==|https://frl.publisso.de/adhoc/uri/S3VlaGxld2VpbiwgTGF1cmE=|https://frl.publisso.de/adhoc/uri/RGFydmlzaCwgSG9zc2Vpbg==|https://frl.publisso.de/adhoc/uri/QWxlaGFiaWIsIEVsaGFt|https://frl.publisso.de/adhoc/uri/QXJlbmFzLVNvcmRvLCBNYXJpYSBkZSBsYSBMdXo=|https://frl.publisso.de/adhoc/uri/U3VyaSwgRmF0ZW1laA==|https://frl.publisso.de/adhoc/uri/Vm9uYSwgQmFyYmFyYQ==|https://orcid.org/0000-0002-0737-0763
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  • DeepGreen-ID: 93518ff5e63a4dd7ac272346a54df165 ; metadata provieded by: DeepGreen (https://www.oa-deepgreen.de/api/v1/), LIVIVO search scope life sciences (http://z3950.zbmed.de:6210/livivo), Crossref Unified Resource API (https://api.crossref.org/swagger-ui/index.html), to.science.api (https://frl.publisso.de/), ZDB JSON-API (beta) (https://zeitschriftendatenbank.de/api/), lobid - Dateninfrastruktur für Bibliotheken (https://lobid.org/resources/search)
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1000 Erstellt am 2023-04-28T14:18:56.527+0200
1000 Erstellt von 322
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1000 Zuletzt bearbeitet 2023-10-20T19:05:51.129+0200
1000 Objekt bearb. Fri Oct 20 19:05:51 CEST 2023
1000 Vgl. frl:6446836
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