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Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families.

Arti PandyaAlexander O'BrienMichael KovasalaGüney BademciMustafa TekinKathleen S Arnos
Published in: Molecular genetics & genomic medicine (2020)
This study represents the largest US cohort of deaf individuals harboring GJB2 and GJB6 variants, including unique subsets of families with deaf parents. Testing additional members to clarify the phase of GJB2/GJB6 variants in multiplex families was crucial in interpreting clinical significance of the variants in the proband. It highlights the importance of determining the phase of GJB2/GJB6 variants when interpreting molecular test results especially in multiplex families with assortative mating.
Keyphrases
  • hearing loss
  • copy number
  • high throughput
  • real time pcr
  • gene expression
  • dna methylation
  • single molecule
  • genome wide