OMIA 000478-9685 : Holoprosencephaly in Felis catus

In other species: horse , pig , sheep

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 236100 , 157170 , 142945 , 142946 , 609637 , 605934 , 610828 , 609408 , 610829 , 614226

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Cross-species summary: Developmental failure of cleavage of the forebrain (prosencephalon); with a deficit in midline facial development, and with cyclopia (see MIA 000249) in the severe form.

Inheritance: Keting et al. (2016) provided evidence consistent with autosomal recessive inheritance.

Clinical features: "Ventriculomegaly with frequent concomitant supratentorial interhemispheric, communicating ventricular type-1b cysts and multiple midline and callosal malformations were detected in all cats displaying neurologic signs" (Keating et al., 2016)

Breed: Toyger.

Reference


2016 Keating, M.K., Sturges, B.K., Sisó, S., Wisner, E.R., Creighton, E.K., Lyons, L.A. :
Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts. J Vet Intern Med 30:617-26, 2016. Pubmed reference: 26846816. DOI: 10.1111/jvim.13836.

Edit History


  • Created by Frank Nicholas on 13 Apr 2016
  • Changed by Frank Nicholas on 13 Apr 2016