Categories: Skeleton phene (incl. short stature & teeth) , Limbs / fins / digit / tail phene , Craniofacial phene

Single-gene trait/disorder: unknown

Disease-related: yes

Molecular basis: Jacinto et al. (2025) used a whole genome sequencing approach to investigate suspected inherited skeletal disorders in sheep and cattle. In the group of dysplasias with multiple joint dislocation several variants of interest were identified which may be disease causing:
A stillborn Holstein calf with craniofacial dysmorphisms, and forelimb skeletal dysplasia was heterozygous for a CCT3 missense variant (Chr3:g.14497551 T > C; c.907 T > C; p.Tyr303His).
A Holstein calf with craniofacial dysmorphisms, forelimb dislocations and skeletal dysplasia was homozygous for an ITGAE missense variant (Chr19:g.24423519A > G; c.986 T > C; p.Ile329Thr).
A Chianina heifer with craniofacial dysmorphism, forelimb dysplasia with joint contracture was a compound heterozygote for two CNTNAP1 variants (missense: Chr19:g.42747176G > A; c.1495G > A; p.Ala734Thr; and intronic Chr19:g.42748559G > A; c.2531-52G > A).
A Holstein calf with forelimb dysplasia with joint contracture was heterozygous for a small disruptive inframe deletion in  NFE2L1 (Chr19:g.38426902AAGG > A; c.531_533delCCT; p.Leu178del).
A Holstein calf with forelimb dysplasia with joint contracture was heterozygous for an IL16 missense variant (Chr21:g.27078178A > G; c.1624A > G; p.Asn542Asp).

 

Breeds: Chianina (Cattle) (VBO_0000178), Holstein Friesian (Cattle) (VBO_0000239), Limousin (Cattle) (VBO_0000274).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).