Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.

doi:10.1007/s00439-022-02444-x

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Article

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.

Human genetics - 1 Apr 2022

Pater Justin A, Penney Cindy, O'Rielly Darren D, Griffin Anne, Kamal Lara, Brownstein Zippora, Vona Barbara, Vinkler Chana, Shohat Mordechai, Barel Ortal, French Curtis R, Singh Sushma, Werdyani Salem, Burt Taylor, Abdelfatah Nelly, Houston Jim, Doucette Lance P, Squires Jessica, Glaser Fabian, Roslin Nicole M, Vincent Daniel, Marquis Pascale, Woodland Geoffrey, Benoukraf Touati, Hawkey-Noble Alexia, Avraham Karen B, Stanton Susan G, Young Terry-Lynn

Abstract excerpt

Sequencing exomes/genomes have been successful for identifying recessive genes; however, discovery of dominant genes including deafness genes (DFNA) remains challenging. We report a new DFNA gene, ATP11A, in a Newfoundland family with a variable form of bilateral sensorineural hearing loss (SNHL). Genome-wide SNP genotyping linked SNHL to DFNA33 (LOD = 4.77), a locus on 13q34 previously mapped in a German family...

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PMID: 35278131
DOI: 10.1007/s00439-022-02444-x
PMCID: PMC9035003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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