A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.

ABSTRACT:

Background

Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause.

Results

Seven malformed calves were submitted examination. All cases shared a common morphology with the most striking lesions being severe facial dysplasia and complete prolapse of the eyes. Consequently the syndrome was named facial dysplasia syndrome (FDS). Furthermore, extensive brain malformations, including microencephaly

SUBMITTER: Agerholm JS 

PROVIDER: S-EPMC5541750 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature