De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf.

ABSTRACT:

Background

Bovine frontonasal dysplasias like arhinencephaly, synophthalmia, cyclopia and anophthalmia are sporadic congenital facial malformations. In this study, computed tomography, necropsy, histopathological examinations and whole genome sequencing on an Illumina NextSeq500 were performed to characterize a stillborn Limousin calf with frontonasal dysplasia. In order to identify private genetic and structural variants, we screened whole genome sequencing data of the affected calf and unaffected relatives including parents, a maternal and paternal halfsibling.

Results

The stillborn calf exhibited severe craniofacial malformations. Nose and maxilla were absent, mandibles were upwardly curved and a median cleft palate was evident. Eyes, optic nerve and orbital cavities were

SUBMITTER: Braun M 

PROVIDER: S-EPMC7777292 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature