Atypical patterns of segregation of familial enlargement of the vestibular aqueduct

Julie A. Muskett, Parna Chattaraj, John F. Heneghan, Fabian R. Reimold, Boris E. Shmukler, Carmen C. Brewer, Kelly A. King, Christopher K. Zalewski, Thomas H. Shawker, John A. Butman, Margaret A. Kenna, Wade W Chien, Seth L. Alper, Andrew J. Griffith

Research output: Contribution to journalArticle

Abstract

Objectives/Hypothesis: Hearing loss and enlarged vestibular aqueduct (EVA) can be inherited as an autosomal recessive trait caused by mutant alleles of the SLC26A4 gene. In some other families, EVA does not segregate in a typical autosomal recessive pattern. The goal of this study was to characterize the SLC26A4 genotypes and phenotypes of extended families with atypical segregation of EVA. Study Design: Prospective study of cohort of families ascertained between 1998 and 2014 at the National Institutes of Health Clinical Center. Methods: Study subjects were members of eight families segregating EVA in at least two members who were not related as siblings. Evaluations included pure-tone audiometry, temporal bone imaging, SLC26A4 nucleotide sequence analysis, SLC26A4-linked marker genotype and haplotype analysis, and pedigree analysis. Results: One family had members with EVA caused by different etiologies, and two families had pseudodominant inheritance of recessive mutations of SLC26A4. In five families, the etiology remained unknown and could include inheritance of mutant alleles at another genetic locus, nongenetic influences, or a combination of these factors. Conclusions: Familial EVA can demonstrate a variety of atypical segregation patterns. Pseudodominant inheritance of SLC26A4 mutations or recessive alleles of other hearing loss genes may be more likely to occur in families in which deaf individuals have intermarried. The etiologic basis of atypical segregation of EVA without detectable SLC26A4 mutations remains unknown. Future studies of these families may reveal novel genes for EVA. Level of Evidence: NA Laryngoscope, 126:E240–E247, 2016.

Original languageEnglish (US)
Pages (from-to)E240-E247
JournalLaryngoscope
Volume126
Issue number7
DOIs
StatePublished - Jul 1 2016
Externally publishedYes

Fingerprint

Vestibular Aqueduct
Alleles
Hearing Loss
Mutation
Genotype
Genes
Pure-Tone Audiometry
Laryngoscopes
Genetic Loci
Enlarged Vestibular Aqueduct
Temporal Bone
National Institutes of Health (U.S.)
Pedigree
Haplotypes
Sequence Analysis
Siblings
Prospective Studies

Keywords

  • Assortative mating
  • deafness
  • genetic
  • hearing loss
  • pseudodominant
  • SLC26A4

ASJC Scopus subject areas

  • Otorhinolaryngology

Cite this

Muskett, J. A., Chattaraj, P., Heneghan, J. F., Reimold, F. R., Shmukler, B. E., Brewer, C. C., ... Griffith, A. J. (2016). Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. Laryngoscope, 126(7), E240-E247. https://doi.org/10.1002/lary.25737

Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. / Muskett, Julie A.; Chattaraj, Parna; Heneghan, John F.; Reimold, Fabian R.; Shmukler, Boris E.; Brewer, Carmen C.; King, Kelly A.; Zalewski, Christopher K.; Shawker, Thomas H.; Butman, John A.; Kenna, Margaret A.; Chien, Wade W; Alper, Seth L.; Griffith, Andrew J.

In: Laryngoscope, Vol. 126, No. 7, 01.07.2016, p. E240-E247.

Research output: Contribution to journalArticle

Muskett, JA, Chattaraj, P, Heneghan, JF, Reimold, FR, Shmukler, BE, Brewer, CC, King, KA, Zalewski, CK, Shawker, TH, Butman, JA, Kenna, MA, Chien, WW, Alper, SL & Griffith, AJ 2016, 'Atypical patterns of segregation of familial enlargement of the vestibular aqueduct', Laryngoscope, vol. 126, no. 7, pp. E240-E247. https://doi.org/10.1002/lary.25737
Muskett JA, Chattaraj P, Heneghan JF, Reimold FR, Shmukler BE, Brewer CC et al. Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. Laryngoscope. 2016 Jul 1;126(7):E240-E247. https://doi.org/10.1002/lary.25737
Muskett, Julie A. ; Chattaraj, Parna ; Heneghan, John F. ; Reimold, Fabian R. ; Shmukler, Boris E. ; Brewer, Carmen C. ; King, Kelly A. ; Zalewski, Christopher K. ; Shawker, Thomas H. ; Butman, John A. ; Kenna, Margaret A. ; Chien, Wade W ; Alper, Seth L. ; Griffith, Andrew J. / Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. In: Laryngoscope. 2016 ; Vol. 126, No. 7. pp. E240-E247.
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abstract = "Objectives/Hypothesis: Hearing loss and enlarged vestibular aqueduct (EVA) can be inherited as an autosomal recessive trait caused by mutant alleles of the SLC26A4 gene. In some other families, EVA does not segregate in a typical autosomal recessive pattern. The goal of this study was to characterize the SLC26A4 genotypes and phenotypes of extended families with atypical segregation of EVA. Study Design: Prospective study of cohort of families ascertained between 1998 and 2014 at the National Institutes of Health Clinical Center. Methods: Study subjects were members of eight families segregating EVA in at least two members who were not related as siblings. Evaluations included pure-tone audiometry, temporal bone imaging, SLC26A4 nucleotide sequence analysis, SLC26A4-linked marker genotype and haplotype analysis, and pedigree analysis. Results: One family had members with EVA caused by different etiologies, and two families had pseudodominant inheritance of recessive mutations of SLC26A4. In five families, the etiology remained unknown and could include inheritance of mutant alleles at another genetic locus, nongenetic influences, or a combination of these factors. Conclusions: Familial EVA can demonstrate a variety of atypical segregation patterns. Pseudodominant inheritance of SLC26A4 mutations or recessive alleles of other hearing loss genes may be more likely to occur in families in which deaf individuals have intermarried. The etiologic basis of atypical segregation of EVA without detectable SLC26A4 mutations remains unknown. Future studies of these families may reveal novel genes for EVA. Level of Evidence: NA Laryngoscope, 126:E240–E247, 2016.",
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AU - Shawker, Thomas H.

AU - Butman, John A.

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AU - Alper, Seth L.

AU - Griffith, Andrew J.

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