J Audiol Otol.  2018 Oct;22(4):223-228. 10.7874/jao.2018.00122.

Pedigree Analysis and Audiological Investigations of Otosclerosis: An Extended Family Based Study

Affiliations
  • 1Genomics Laboratory, Department of Genetic Engineering, SRM University, Kattankulathur, Kancheepuram, India. parani.m@ktr.srmuniv.ac.in
  • 2KKR ENT Hospital and Research Institute, Chennai, India.

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. Otosclerosis was 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 otosclerosis during 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
The five-generation family, which was analysed in the present study, exhibited autosomal dominant inheritance of otosclerosis with reduced penetrance. Bilateral HL and pregnancy-aggravated otosclerosis 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.

Keyword

Familial otosclerosis; Conductive hearing loss; Pedigree analysis; Autosomal dominant

MeSH Terms

Acoustic Impedance Tests
Age of Onset
Audiometry
Family Characteristics
Female
Hearing Loss
Hearing Loss, Conductive
Humans
Inheritance Patterns
Mothers
Otosclerosis*
Pedigree*
Penetrance
Pregnancy
Reflex, Acoustic
Wills
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