Dyplasias with multiple joint dislocations

Phene ID

6708

Name

Dyplasias with multiple joint dislocations

Phene Name

N/A

OMIA ID

3024

Species ID

9913

Characterised

No

Characterised Year

N/A

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).