Pedigree Analysis and Audiological Investigations of Otosclerosis: An Extended Family Based Study
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Background and Objectives: To analyse the audiometric profile and the pedigree of a large family with otosclerosis to understand the inheritance pattern and its implication in clinical management of the disease. Subjects and Methods: Pedigree analysis was performed on the basis of family history and audiometric tests. Pure tone audiometry, tympanometry, and acoustic reflexes were evaluated for the family members. Audiometric analysis was also carried out for the individuals who have already underwent corrective surgery at the time of study. Results: Out of 112 family members, 17 were affected individuals, and 11 of them were surgically confirmed. Hearing loss (HL) started unilaterally and progressed to bilateral form. Otosclerosiswas presented in early 20’s in the first and second generations but it was delayed to mid-late 30’s in the fourth generation. An affected female was diagnosed with otosclerosisduring her pregnancy. Though the disease was familial, a mother of four affected offspring in this family did not develop otosclerosis until she died at the age of 84. Conclusions: Thefive-generation family, which was analysed in the present study, exhibited autosomal dominant inheritance of otosclerosis with reduced penetrance. Bilateral HL and pregnancy-aggravatedotosclerosis were observed in this family. It was found for the first time that the age of onset of the disease delayed in the successive generations. The current study indicated the importance of detailed pedigree analysis for better clinical management of otosclerosis.
Abstract
Background and Objectives: To analyse the audiometric profile and the pedigree of a large family with otosclerosis to understand the inheritance pattern and its implication in clinical management of the disease. Subjects and Methods: Pedigree analysis was performed on the basis of family history and audiometric tests. Pure tone audiometry, tympanometry, and acoustic reflexes were evaluated for the family members. Audiometric analysis was also carried out for the individuals who have already underwent corrective surgery at the time of study. Results: Out of 112 family members, 17 were affected individuals, and 11 of them were surgically confirmed. Hearing loss (HL) started unilaterally and progressed to bilateral form. Otosclerosiswas presented in early 20’s in the first and second generations but it was delayed to mid-late 30’s in the fourth generation. An affected female was diagnosed with otosclerosisduring her pregnancy. Though the disease was familial, a mother of four affected offspring in this family did not develop otosclerosis until she died at the age of 84. Conclusions: Thefive-generation family, which was analysed in the present study, exhibited autosomal dominant inheritance of otosclerosis with reduced penetrance. Bilateral HL and pregnancy-aggravatedotosclerosis were observed in this family. It was found for the first time that the age of onset of the disease delayed in the successive generations. The current study indicated the importance of detailed pedigree analysis for better clinical management of otosclerosis.
참고문헌 (16)
- Rudic M, "The pathophysiology of otosclerosis: review of current research", Hear Res, 330, pp.51~56 (2015)[DOI]
- Kapur YP, "Otosclerosis in South India", Acta Otolaryngol, 61, pp.353~360 (1966)[DOI]
- Kameswaran S, "Audiological and haematological studies on the Todas of Nilgiris", J Laryngol Otol, 90, pp.325~333 (1976)[DOI]
- Thys M, "Genetics of otosclerosis", Otol Neurotol, 30, pp.1021~1032 (2009)[DOI]
- "Otosclerosis"[URL]
- Carhart R, "Clinical application of bone conduction audiometry", Arch Otolaryngol, 51, pp.798~808 (1950)[DOI]
- Kashio A, "Carhart notch 2-kHz bone conduction threshold dip: a nondefinitive predictor of stapes fixation in conductive hearing loss with normal tympanic membrane", Arch Otolaryngol Head Neck Surg, 137, pp.236~240 (2011)[DOI]
- Lee HM, "Clinical and audiological characteristics of 1000Hz audiometric notch patients", Am J Otolaryngol, 38, pp.521~525 (2017)[DOI]
- Perez R, "Variations in the Carhart notch and overclosure after laser-assisted stapedotomy in otosclerosis", Otol Neurotol, 30, pp.1033~1036 (2009)[DOI]
- Moumoulidis I, "A review on the genetics of otosclerosis", Clin Otolaryngol, 32, pp.239~247 (2007)[DOI]
- Ealy M, "The genetics of otosclerosis", Hear Res, 266, pp.70~74 (2010)[DOI]
- Tomek MS, "Localization of a gene for otosclerosis to chromosome 15q25-q26", Hum Mol Genet, 7, pp.285~290 (1998)[DOI]
- "Clinical otosclerosis"[URL]
- Schrauwen I, "The etiology of otosclerosis: a combination of genes and environment", Laryngoscope, 120, pp.1195~1202 (2010)
- Saeed SR, "The genetics of otosclerosis: pedigree studies and linkage analysis", Adv Otorhinolaryngol, 65, pp.75~85 (2007)
- Niedermeyer HP, "Evidence of increased average age of patients with otosclerosis", Adv Otorhinolaryngol, 65, pp.17~24 (2007)