Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Autor: Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

Publikováno v: HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)

Summary: A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of USH2A-asso

Externí odkaz: https://doaj.org/article/3a1d6bbbc0b84a3f9409fc1710e756ce

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A

Autor: Janine Reurink, Jaap Oostrik, Marco Aben, Mariana Guimarães Ramos, Emma van Berkel, Monika Ołdak, Erwin van Wijk, Hannie Kremer, Susanne Roosing, Frans P. M. Cremers

Publikováno v: International Journal of Molecular Sciences, Vol 23, Iss 21, p 13343 (2022)

Non-canonical splice site variants are increasingly recognized as a relevant cause of the USH2A-associated diseases, non-syndromic autosomal recessive retinitis pigmentosa and Usher syndrome type 2. Many non-canonical splice site variants have been r

Externí odkaz: https://doaj.org/article/aadb6df550b04686b11b71b56070c80a

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Autor: Celia Zazo Seco, Anna Castells-Nobau, Seol-hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S. Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M. Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P. van de Warrenburg, Chiea Chuen Khor, Martin C. Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi

Publikováno v: Disease Models & Mechanisms, Vol 10, Iss 2, Pp 105-118 (2017)

A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequ

Externí odkaz: https://doaj.org/article/61e74f9ef396439ebd381addcbedf971

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

Autor: Hedwig M. Velde, Janine Reurink, Sebastian Held, Catherina H. Z. Li, Suzanne Yzer, Jaap Oostrik, Jack Weeda, Lonneke Haer-Wigman, Helger G. Yntema, Susanne Roosing, Laurenz Pauleikhoff, Clemens Lange, Laura Whelan, Adrian Dockery, Julia Zhu, David J. Keegan, G. Jane Farrar, Hannie Kremer, Cornelis P. Lanting, Markus Damme, Ronald J. E. Pennings

Publikováno v: Human Genetics, 141, 11, pp. 1723-1738
Human Genetics, 141, 1723-1738

Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heterogeneous both clinically and genetically. Re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06cf4ad4fff1a689f51e7f408ecfb9b4
https://repository.ubn.ru.nl/handle/2066/287277

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

Autor: Ronald J.E. Pennings, Hannie Kremer, Erik de Vrieze, Sjoert A. H. Pegge, Frans P.M. Cremers, Cornelis P. Lanting, Kornelia Neveling, Helger G. Yntema, Jaap Oostrik, Suzanne E. de Bruijn, Susanne Roosing, Tuomo Mantere, Luke O’Gorman, Jeroen Smits, Alexander Hoischen, Ronny Derks

Publikováno v: Human genetics. Springer Verlag
Human Genetics, 141, 3-4, pp. 465-484
Human Genetics, 141(3-4), 465-484. SPRINGER
Human Genetics. Springer Verlag
DOOFNL Consortium 2021, ' Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant ', Human Genetics . https://doi.org/10.1007/s00439-021-02336-6
Human Genetics, 141(3-4), 465-484. Springer-Verlag
Human Genetics, 141, 465-484

Pathogenic variants in SLC26A4 have been associated with autosomal recessive hearing loss (arHL) and a unilateral or bilateral enlarged vestibular aqueduct (EVA). SLC26A4 is the second most frequently mutated gene in arHL. Despite the strong genotype

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e26abe150352dfdf31cfa303d508308d
https://hdl.handle.net/1887/3593858