A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

Table 1 Previously reported genetic variants of COL2A1 causing the OMIA 001926-9913 bulldog calf syndrome in cattle

Inheritance	Type of variant	Variant^a	Breed	References
AD, mosaicism	Missense	g.32307658G > A p.Gly960Arg	Holstein	[13]
AD, mosaicism	Splicing	g.32305226G > A	Holstein	[8]
AD, mosaicism	Missense	g.32301746G > A p.Gly600Asp	Charolais × Salers	[12]
AD, de novo	Missense	g.32303739G > A p.Gly720Ser	Holstein	[12]
AD, mosaicism	Missense	g.32308008G > A p.Gly996Ser	Holstein	[9]
AD, de novo	Missense	g.32308734G > A p.Gly1056Ser	Holstein	[14]

AD autosomal dominant, OMIA Online Mendelian Inheritance in Animals, https://omia.org/home/
^aGiven positions correspond to chromosome 5 of the ARS-UCD1.2 assembly and NP_001001135.2

ISSN: 1751-0147