Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

Human Mutation
Heini HartikkaLeena Ala-Kokko

Abstract

Osteogenesis imperfecta (OI) is caused by mutations in COL1A1 and COL1A2 that code for the alpha1 and alpha2 chains of type I collagen. Phenotypes correlate with the mutation types in that COL1A1 null mutations lead to OI type I, and structural mutations in alpha1(I) or alpha2(I) lead to more severe OI types (II-IV). However, correlative analysis between mutation types and OI associated hearing loss has not been previously performed. A total of 54 Finnish OI patients with previously diagnosed hearing loss or age 35 or more years were analyzed here for mutations in COL1A1 or COL1A2. Altogether 49 mutations were identified, of which 41 were novel. The 49 mutations represented the molecular genetic background of 41.1% of the Finnish OI population. A total of 38 mutations were in COL1A1 and 11 were in COL1A2. Of these, 16 were glycine substitutions and 16 were splicing mutations in alpha1(I) or alpha2(I). In addition, 17 null allele mutations were detected in COL1A1. A total of 32 patients (65.3%) with a mutation had hearing loss. That is slightly more than in our previous population study on Finnish adults with OI (57.9%). The association between the mutation types and OI type was statistically evident. Patients with COL1A1 mutati...Continue Reading

References

May 13, 1978·Lancet·D O Sillence, D L Rimoin
Apr 1, 1979·Archives of Otolaryngology·R W QuislingR W Cantrell
Apr 1, 1979·Journal of Medical Genetics·D O SillenceD M Danks
Jul 1, 1991·Journal of Medical Genetics·P H ByersM C Willing
Dec 1, 1989·Clinical Otolaryngology and Allied Sciences·E J Stewart, B F O'Reilly
Jan 1, 1988·Annals of the New York Academy of Sciences·D O Sillence
Apr 16, 1982·JAMA : the Journal of the American Medical Association·J R ShapiroD W Rowe
Oct 1, 1982·Southern Medical Journal·J R Cox, C L Simmons
Dec 1, 1980·Archives of Otolaryngology·E D RiednerM J Holliday
Jul 1, 1996·The Laryngoscope·A K LalwaniE R Wilcox
May 1, 1996·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·J WaltimoP L Lukinmaa
Jul 1, 1997·The Annals of Otology, Rhinology, and Laryngology·A J GarretsenP L Huygén
Mar 21, 1998·Proceedings of the National Academy of Sciences of the United States of America·J KörkköL Ala-Kokko
Nov 7, 1998·Mutation Research·C R Valentine
Aug 3, 2000·European Journal of Pediatrics·K KuurilaI Kaitila
Sep 8, 2000·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·F H GlorieuxN J Bishop
Mar 29, 2001·The Journal of Laryngology and Otology·C R PatersonS J McAllion
Jan 5, 2002·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Francis H GlorieuxRose Travers
Jul 19, 2002·Clinical Genetics·M B Petersen
Oct 23, 2002·The Annals of Otology, Rhinology, and Laryngology·Kaija KuurilaReidar Grénman
Oct 26, 2002·American Journal of Medical Genetics·Christine M Hall
Jun 5, 2003·Mental Retardation and Developmental Disabilities Research Reviews·Walter E Nance
Jul 3, 2003·American Journal of Medical Genetics. Part a·K KuurilaJ Waltimo
Jul 23, 2003·Clinical Otolaryngology and Allied Sciences·S W Hone, R J H Smith
Aug 1, 1963·The Journal of Laryngology and Otology·J J SHEAF ALTMANN
Apr 1, 2004·The Annals of Otology, Rhinology, and Laryngology·Kaija KuurilaReidar Grénman

❮ Previous
Next ❯

Citations

Jun 15, 2011·Nature Reviews. Endocrinology·Antonella ForlinoJoan C Marini
Sep 22, 2012·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Felipe SantosSaumil Merchant
Sep 14, 2011·Journal of Osteoporosis·I Mouna Ben AmorFrank Rauch
Jan 1, 2011·Genetics Research International·Joseph P PillionJay Shapiro
Dec 31, 2011·Orphanet Journal of Rare Diseases·Freya K R SwinnenEls M R De Leenheer
Feb 23, 2011·Genetics and Molecular Research : GMR·Z YangL T Wang
Apr 10, 2009·The Laryngoscope·Freya K R SwinnenIngeborg J M Dhooge
Sep 19, 2007·Pediatrics International : Official Journal of the Japan Pediatric Society·Kyoko KataokaHiroyuki Tanaka
Aug 2, 2006·Clinical Genetics·G VenturiL Tatò
Jan 20, 2012·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Heidi ArponenJanna Waltimo-Sirén
Jul 14, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Marianne Rohrbach, Cecilia Giunta
Feb 14, 2013·The Laryngoscope·Freya K R SwinnenIngeborg J M Dhooge
Jan 19, 2012·The Laryngoscope·Freya K R SwinnenIngeborg J M Dhooge
May 7, 2015·European Journal of Human Genetics : EJHG·Katarina LindahlAndreas Kindmark
Oct 17, 2013·Genetics and Molecular Biology·Kai ChenMing Li
Feb 8, 2008·The Annals of Otology, Rhinology, and Laryngology·Kaalan JohnsonCraig Derkay
Mar 9, 2012·Audiology & Neuro-otology·Freya K R SwinnenIngeborg J M Dhooge
Jun 19, 2018·The Journal of Laryngology and Otology·S MartensF K R Swinnen
Jul 20, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Richard M Pauli
Aug 19, 2017·Nature Reviews. Disease Primers·Joan C MariniOliver Semler
Dec 27, 2019·American Journal of Medical Genetics. Part a·Keren MacholCathleen Raggio
Apr 23, 2014·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Robert VincentWilko Grolman
Dec 7, 2011·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Freya K R SwinnenEls M R De Leenheer
Jun 21, 2019·Intractable & Rare Diseases Research·Naixiang ZhaiJinxiang Han
Jul 22, 2006·Advances in Enzyme Regulation·Nadir M MaraldiFrancesco A Manzoli
Jun 17, 2019·European Annals of Otorhinolaryngology, Head and Neck Diseases·F CarréN Loundon
May 3, 2011·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Zhenping XuJing Yu Liu

❮ Previous
Next ❯

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

© 2022 Meta ULC. All rights reserved