Osteogenesis imperfecta: Hearing and genetic study of a family with a mutation in the COL1A1 gene
Abstract Introduction: Osteogenesis imperfecta (OI) is a rare hereditary connective tissue disease that results in a bone fragility, blue sclerae and hearing loss. The objective of our study was to determine the heterogeneity and variety of the clinical- hearing spectrum of the OI. Methods: Genetic study was performed in a four-member family, where three of them presented hearing impairment. Results: Genetic study performed to the four patients determine c.804+1G›A heterozygosis mutation in the 11 intron of COL1A gene, in those three patients with hearing loss. Severity and type of hearing loss found were different in each patient: in one case a mild bilateral neurosensorial hearing loss, with high frequencies affected; another one bilateral moderate mixed hearing loss, and the third one was a unilateral mild conductive hearing loss. Conclusions: Hearing loss associated with c.804+1G>A mutation in the 11 intron of del COL1A1 gen, is characterized by a high variability related to the severity and kind of hearing loss developed, that it could be even neurosensorial or conductive type, even in members of the same family.
- Carta de presentacion (Español (España))
- Figura 1 (Español (España))
- Figura 2 (Español (España))
- Figura 3 (Español (España))
- Figura 4 (Español (España))
- Figura 5 (Español (España))
- 1 pagina (Español (España))
- Manuscrito (Español (España))
- Osteogénesis Imperfecta: Estudio auditivo y genético de una familia con una mutación en el gen COL1A1 (Español (España))
- Referencias
- Cómo citar
- Del mismo autor
- Métricas
Amor MB, Glorieux FH., Rauch F. Osteogenesis imperfecta. Best Pract Res Clin Rheumatol. 2008;22:85–100. - https://doi.org/10.1016/j.berh.2007.12.012 - PMid:18328983
Baujat G, Lebre AS, Cormier-Daire V, Le Mener M. Osteogenesis imperfecta ; diagnosis information (clinical and genetic classification). Arch Pediatr. 2008;15:789–91. - https://doi.org/10.1016/S0929-693X(08)71912-2
Chevrel G, Schott AM, Fontanges E, Charrin JE, Lina-Granade G,. Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial. J Bone Miner Res. 2006;21:300-6 - https://doi.org/10.1359/JBMR.051015 - PMid:16418786
G. Kontorinis, T. Lenarz, H. Mojallal, A. L. Hinze, and B.Schwab, "Power stapes: an alternative method for treating hearing loss in osteogenesis imperfecta?" Otology and Neurotology, vol. 32, no. 4, pp. 589–595, 2011. - https://doi.org/10.1097/MAO.0b013e318213b0f1 - PMid:21436749
Makizumi Y, Kashio A, Sakamoto T, Karino S, Kakigi A, Iwasaki S, et al. Cochlear implantation in a patient with osteogenesis imperfecta. Auris Nasus Larynx. 2013;40:510-513. - https://doi.org/10.1016/j.anl.2012.10.006 - PMid:23219154
Marini J, Smith SM . Osteogenesis imperfecta. MDText.com, Inc. 2000.
Migirov L, Henkin Y, Hildesheimer M, Kronenberg J. Cochlear implantation in a child with osteogenesis imperfecta. International Journal of Pediatric Otorhinolaryngology. 2003;67:677-80. - https://doi.org/10.1016/S0165-5876(03)00073-9
Pereira da Silva A, Feliciano T, Figueiringhas R, Almeida E, Sousa C. Osteogenesis imperfecta and hearing loss, description of three case reports. Acta Otorrinolaringol Esp. 2013;64:413-7. - https://doi.org/10.1016/j.otoeng.2013.05.002
Pillion,J, Vernick, D, Shapiro J. Hearing Loss in Osteogenesis Imperfecta: Characteristics and Treatment Considerations. Genetics Research International. Volume 2011, Article 983942.
Steiner,R, Adsit,J and Basel, D. COL1A1/2-Related Osteogenesis Imperfecta. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2018. - PMid:28592444 PMCid:PMC5496613
Swinnen F., Coucke PJ. De Paepe AM, Symoens S, Malfait F, Gentile FV, et al. Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype. Orphanet Journal of Rare Diseases. 2011;6:88- - https://doi.org/10.1186/1750-1172-6-88 - PMid:22206639 PMCid:PMC3267664
Swinnen FK, Casselman JW, De Leenheer EM, Cremers CW, Dhooge IJ. Temporal bone imaging in osteogenesis imperfecta patients with hearing loss. Laryngoscope. 2013;123:1988-95. - https://doi.org/10.1002/lary.23963 - PMid:23404366
Ting TH, Zacharing MR. Hearing in bisphosphanate-treated children with osteogenesis imperfecta. Our experience in thirty six young patients. Clinc Otolaryngol. 2012;37:229-33. - https://doi.org/10.1111/j.1749-4486.2012.02476.x - PMid:22708940
Vincent R, Wegner I, Stegenon I, Grolman W. Stapedotomy in osteogenesis imperfecta: a prospective study of 32 consecutive cases. Otol Neurotol. 2014;35;1785-9. - https://doi.org/10.1097/MAO.0000000000000372 - PMid:24751750
Baujat G, Lebre AS, Cormier-Daire V, Le Mener M. Osteogenesis imperfecta ; diagnosis information (clinical and genetic classification). Arch Pediatr. 2008;15:789–91. - https://doi.org/10.1016/S0929-693X(08)71912-2
Chevrel G, Schott AM, Fontanges E, Charrin JE, Lina-Granade G,. Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial. J Bone Miner Res. 2006;21:300-6 - https://doi.org/10.1359/JBMR.051015 - PMid:16418786
G. Kontorinis, T. Lenarz, H. Mojallal, A. L. Hinze, and B.Schwab, "Power stapes: an alternative method for treating hearing loss in osteogenesis imperfecta?" Otology and Neurotology, vol. 32, no. 4, pp. 589–595, 2011. - https://doi.org/10.1097/MAO.0b013e318213b0f1 - PMid:21436749
Makizumi Y, Kashio A, Sakamoto T, Karino S, Kakigi A, Iwasaki S, et al. Cochlear implantation in a patient with osteogenesis imperfecta. Auris Nasus Larynx. 2013;40:510-513. - https://doi.org/10.1016/j.anl.2012.10.006 - PMid:23219154
Marini J, Smith SM . Osteogenesis imperfecta. MDText.com, Inc. 2000.
Migirov L, Henkin Y, Hildesheimer M, Kronenberg J. Cochlear implantation in a child with osteogenesis imperfecta. International Journal of Pediatric Otorhinolaryngology. 2003;67:677-80. - https://doi.org/10.1016/S0165-5876(03)00073-9
Pereira da Silva A, Feliciano T, Figueiringhas R, Almeida E, Sousa C. Osteogenesis imperfecta and hearing loss, description of three case reports. Acta Otorrinolaringol Esp. 2013;64:413-7. - https://doi.org/10.1016/j.otoeng.2013.05.002
Pillion,J, Vernick, D, Shapiro J. Hearing Loss in Osteogenesis Imperfecta: Characteristics and Treatment Considerations. Genetics Research International. Volume 2011, Article 983942.
Steiner,R, Adsit,J and Basel, D. COL1A1/2-Related Osteogenesis Imperfecta. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2018. - PMid:28592444 PMCid:PMC5496613
Swinnen F., Coucke PJ. De Paepe AM, Symoens S, Malfait F, Gentile FV, et al. Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype. Orphanet Journal of Rare Diseases. 2011;6:88- - https://doi.org/10.1186/1750-1172-6-88 - PMid:22206639 PMCid:PMC3267664
Swinnen FK, Casselman JW, De Leenheer EM, Cremers CW, Dhooge IJ. Temporal bone imaging in osteogenesis imperfecta patients with hearing loss. Laryngoscope. 2013;123:1988-95. - https://doi.org/10.1002/lary.23963 - PMid:23404366
Ting TH, Zacharing MR. Hearing in bisphosphanate-treated children with osteogenesis imperfecta. Our experience in thirty six young patients. Clinc Otolaryngol. 2012;37:229-33. - https://doi.org/10.1111/j.1749-4486.2012.02476.x - PMid:22708940
Vincent R, Wegner I, Stegenon I, Grolman W. Stapedotomy in osteogenesis imperfecta: a prospective study of 32 consecutive cases. Otol Neurotol. 2014;35;1785-9. - https://doi.org/10.1097/MAO.0000000000000372 - PMid:24751750
Acle-Cervera, L., Corriols-Noval, P., Gil-Aguilar, M. T., Foltalva-Romero, A., & Morales-Angulo, C. (2018). Osteogenesis imperfecta: Hearing and genetic study of a family with a mutation in the COL1A1 gene. Revista ORL, 10(2), 103–108. https://doi.org/10.14201/orl.19230
Most read articles by the same author(s)
- Carmelo Morales-Angulo, Rocío González-Zubizarreta, Gema Martín-Toca, Almudena Ramírez-Bonilla, Mónica Gonzalo-Margüello, Ana Rodríguez-Fernández, Nasopharyngeal swab for the diagnosis of COVID-19 , Revista ORL: Vol. 11 No. 4 (2020)
- Patricia Corriols-Noval, Beatriz Palmero-Sánchez, Gianni Faelens, Carmelo Morales-Angulo, Eugenia López-Simón, Head and neck manifestations of cocaine abuse. Review , Revista ORL: Vol. 13 No. 1 (2022)
- Eugenia Lopez-Simon, Patricia Corriols-Noval, Nathalia Castillo-Ledesma, Carmelo Morales-Angulo, Osteonecrosis of the external auditory canal secondary to bisphosphonates. Systematic review , Revista ORL: Vol. 10 No. 4 (2019)
- Minerva Rodríguez-Martín, Patricia Corriols-Noval, Eugenia López-Simón, Belén Salvatierra-Vicario, Ramón Cobo-Díaz, Yaiza García-Ibáñez, Yolanda Longarela-Herrero, Dehiscence of the anterior wall of the external auditory canal with involvement of the temporomandibular joint after exostosis surgery. Systematic review , Revista ORL: Vol. 14 No. 1 (2023)
- Jorge Bedia-Cadelo, Carmelo Morales-Angulo, Laryngeal manifestations of IgG4-related disease. Systematic review , Revista ORL: Vol. 13 No. 1 (2022)
- Patricia Corriols-Noval, Francisco José Herrero-Fernández, Guillermo Hernán Piero-Belmonte, Reconstruction of auricular conchal defects with postauricular island flap. A case report , Revista ORL: Vol. 10 No. 4 (2019)
- Minerva Rodríguez-Martín, Eugenia López-Simón, Ramón Cobo-Díaz, Belén Salvatierra-Vicario, Yaiza García-Ibáñez, Carmelo Morales-Angulo, Sudden Sensorineural Hearing Loss as an Initial Symptom of Vestibular Schwannoma , Revista ORL: Vol. 13 No. S2 (2022): XXVIII Congreso de la Sociedad Otorrinolaringológica de Castilla y León, Cantabria y La Rioja Valladolid 2, 3 y 4 de junio de 2022
- Minerva Rodríguez-Martín, Eugenia López-Simón, Ramón Cobo-Díaz, Belén Salvatierra-Vicario, Yaiza García-Ibáñez, Laura Baldizán-Velasco, Carmelo Morales-Angulo, Evaluation of Patients Diagnosed with Sudden Profound Unilateral Hearing Loss: 12-year Retrospective Study , Revista ORL: Vol. 13 No. S2 (2022): XXVIII Congreso de la Sociedad Otorrinolaringológica de Castilla y León, Cantabria y La Rioja Valladolid 2, 3 y 4 de junio de 2022
- Eugenia López-Simón, Patricia Corriols-Noval, NATHALIA Castillo-Ledesma, Carmelo Morales-Angulo, Deep neck abscess with risk of airway obstruction in an infant. A case report , Revista ORL: Vol. 10 No. 4 (2019)
- Natalia Castañeda-Curto, M.ª Teresa Gil-Aguilar, Aiara Viana-Cora, Carmelo Morales-Angulo, Retrospective study of acute epiglottitis in Cantabria in the period 1992-2015 , Revista ORL: Vol. 9 No. 1 (2018)
Downloads
Download data is not yet available.
+
−