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Article

PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome.

G3 (Bethesda, Md.) - 4 Sept 2024

Rudd Garces Gabriela, Farke Daniela, Schmidt Martin J, Letko Anna, Schirl Katja, Abitbol Marie, Leeb Tosso, Lyons Leslie A, Lühken Gesine

Abstract excerpt

This study investigated the dominant blue eyes (DBE) trait linked to hearing impairment and variable white spotting in Maine Coon cats. Fifty-eight animals descending from 2 different DBE lineages, the Dutch and the Topaz lines, were sampled. They comprised 48 cats from the Dutch bloodline, including 9 green-eyed and 31 blue-eyed cats, with some individuals exhibiting signs of deafness, and 8 stillborn kittens....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 38869246
DOI: 10.1093/g3journal/jkae131
PMCID: PMC11373664

Genes

PAX3
EDN3
HERC2
KIT
OCA2
SLC24A5
TYRP1

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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