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Ataxia and dyslipidemia, LIPC-related

Weber et al. (2026) investigated an inherited neuromuscular disorder in Brown Swiss cattle. Use of whole genome sequencing resulted in the identification of a "rare homozygous missense variant in LIPC (chr10:51715800G>C; NM_001035410.1:c.924C>G; p.Phe308Leu; omia.variant:1842) ... and in-silico predictions classified this variant as deleterious. Population-level genotyping of over 20.000 BS cattle revealed a variant allele frequency of 1...

OMIA ID: 3023Inheritance: 5Characterised: YesYear: 2026