OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

Orphanet Journal of Rare Diseases
Michaela ThoenesHanno Bolz

Abstract

Early-onset hearing loss is mostly of genetic origin. The complexity of the hearing process is reflected by its extensive genetic heterogeneity, with probably many causative genes remaining to be identified. Here, we aimed at identifying the genetic basis for autosomal dominant non-syndromic hearing loss (ADNSHL) in a large German family. A panel of 66 known deafness genes was analyzed for mutations by next-generation sequencing (NGS) in the index patient. We then conducted genome-wide linkage analysis, and whole-exome sequencing was carried out with samples of two patients. Expression of Osbpl2 in the mouse cochlea was determined by immunohistochemistry. Because Osbpl2 has been proposed as a target of miR-96, we investigated homozygous Mir96 mutant mice for its upregulation. Onset of hearing loss in the investigated ADNSHL family is in childhood, initially affecting the high frequencies and progressing to profound deafness in adulthood. However, there is considerable intrafamilial variability. We mapped a novel ADNSHL locus, DFNA67, to chromosome 20q13.2-q13.33, and subsequently identified a co-segregating heterozygous frameshift mutation, c.141_142delTG (p.Arg50Alafs*103), in OSBPL2, encoding a protein known to interact with ...Continue Reading

References

Jul 5, 1991·Journal of Molecular Biology·S BrunakS Knudsen
Oct 14, 1967·Nature·M StefaniniL Zamboni
Oct 1, 1997·Journal of Computational Biology : a Journal of Computational Molecular Cell Biology·M G ReeseD Haussler
Sep 3, 1999·Mechanisms of Development·A MorrisonJ Lewis
May 10, 2000·Nature Genetics·D F GudbjartssonA Kong
Aug 29, 2001·Bioinformatics·G R AbecasisL R Cardon
Dec 12, 2001·Genomics·C J JaworskiI R Rodriguez
Feb 28, 2002·Proceedings of the National Academy of Sciences of the United States of America·Thomas WeberMarlies Knipper
Jun 26, 2003·Nucleic Acids Research·Pauline C Ng, Steven Henikoff
Jun 5, 2004·Genomics·Celine PompeiaBechara Kachar
Sep 21, 2004·Bioinformatics·Holger Thiele, Peter Nürnberg
Jan 14, 2005·Bioinformatics·Franz Rüschendorf, Peter Nürnberg
May 10, 2005·Bioinformatics·Carles Ferrer-CostaModesto Orozco
Aug 30, 2005·The Journal of Clinical Investigation·Agnes FüttererCarlos Martínez-A
Jan 19, 2007·The European Journal of Neuroscience·Nicola SchugMarlies Knipper
Apr 1, 2008·Proceedings of the National Academy of Sciences of the United States of America·Keisuke SawadaYoshinori Moriyama
Apr 14, 2009·Nature Genetics·Morag A LewisKaren P Steel
Apr 14, 2009·Nature Genetics·Angeles MencíaMiguel Angel Moreno-Pelayo
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Jun 10, 2009·Bioinformatics·Heng LiUNKNOWN 1000 Genome Project Data Processing Subgroup
Mar 3, 2010·Genome Medicine·Marc ViaEsteban González Burchard
Aug 3, 2010·Nature Methods·Jana Marie SchwarzDominik Seelow
Sep 29, 2011·Nature Reviews. Genetics·Michael J BamshadJay Shendure
Mar 13, 2013·Nature Reviews. Genetics·Heidi L Rehm
Nov 8, 2013·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Vesa M Olkkonen
Aug 1, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Guangqian XingXin Cao
Oct 18, 2014·Archives of Disease in Childhood·Michael Parker, Maria Bitner-Glindzicz

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Citations

Mar 19, 2016·Scientifica·Oguz Kadir Egilmez, M Tayyar Kalcioglu
Apr 12, 2016·International Journal of Pediatric Otorhinolaryngology·Chunyu LiuXin Cao
Apr 8, 2015·Molecular and Cellular Probes·Barbara VonaThomas Haaf
Mar 19, 2016·Scientific Reports·Morag A LewisKaren P Steel
Nov 3, 2016·Current Opinion in Pediatrics·Christina M Sloan-Heggen, Richard J H Smith
Jan 3, 2019·Genomics & Informatics·Nathanial T Carpena, Min Young Lee
Nov 3, 2017·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Henriikka KentalaVesa M Olkkonen
Apr 4, 2020·The Laryngoscope·Shadi AhmadmehrabiDaniel J Rader
Sep 24, 2016·Clinical Science·Ugo Soffientini, Annette Graham
Mar 15, 2018·Cellular and Molecular Life Sciences : CMLS·Antonietta Pietrangelo, Neale D Ridgway
Feb 23, 2017·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Mohammad-Reza Mahmoudian-SaniMohammad-Saeid Jami
Aug 28, 2019·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Jun YaoYifan Dai
Mar 13, 2021·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Jeroen J SmitsRonald J E Pennings
Aug 28, 2021·Genes·Roxane Van HeurckAriane Paoloni-Giacobino
Mar 18, 2019·Developmental Neuroscience·Sowmyalakshmi RasikaVincent El Ghouzzi

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Methods Mentioned

BETA
genotyping
PCR

Software Mentioned

Mutation Taster
BWA
Integrative Genomics Viewer ( IGV )
cellSens
Pmut
Illumina Real - Time Analysis ( RTA )
HaploPainter
NNSPLICE
cellSens Dimension
NetGene2

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