The detail information of Brachycephaly
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: yes

Year key mutation first reported: 2012

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
There are associated breeds.
Associated Gene
Symbol Description Species Position Other Links
SMOC2 SPARC related modular calcium binding 2 Canis lupus familiaris Chr1 : 56009740 - 56168234 Homologene, Ensembl, NCBI gene
BMP3 bone morphogenetic protein 3 Canis lupus familiaris Chr- : - - - Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2021 Mondino,A.,Delucchi,L.,Moeser,A.,Cerdá-González,S.,Vanini,G.: :
Sleep Disorders in dogs: A Pathophysiological and Clinical Review. Top Companion Anim Med 43:100516, 2021.
Pubmed reference: 33556640 . DOI: 10.1016/j.tcam.2021.100516 .
2021 Niskanen,J.E.,Reunanen,V.,Salonen,M.,Bannasch,D.,Lappalainen,A.K.,Lohi,H.,Hytönen,M.K.: :
Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies. Hum Genet :, 2021.
Pubmed reference: 33599851 . DOI: 10.1007/s00439-021-02261-8 .
2020 Sophocleous,R.A.,Sluyter,V.,Curtis,B.L.,Curtis,S.J.,Jurak,L.M.,Faulks,M.,Spildrejorde,M.,Gates,S.,Proctor,E.J.,Seavers,A.,Watson,D.,Kuit,T.,Dowton,M.,Stokes,L.,Sluyter,R.: :
Association of a P2RX7 gene missense variant with brachycephalic dog breeds. Anim Genet 51:127-131, 2020.
Pubmed reference: 31774195 . DOI: 10.1111/age.12884 .
2019 Ravn-Mølby,E.M.,Sindahl,L.,Nielsen,S.S.,Bruun,C.S.,Sandøe,P.,Fredholm,M.: :
Breeding French bulldogs so that they breathe well-A long way to go. PLoS One 14:e0226280, 2019.
Pubmed reference: 31841527 . DOI: 10.1371/journal.pone.0226280 .
2018 Fawcett,A.,Barrs,V.,Awad,M.,Child,G.,Brunel,L.,Mooney,E.,Martinez-Taboada,F.,McDonald,B.,McGreevy,P.: :
Consequences and Management of Canine Brachycephaly in Veterinary Practice: Perspectives from Australian Veterinarians and Veterinary Specialists. Animals (Basel) 9:, 2018.
Pubmed reference: 30577619 . DOI: 10.3390/ani9010003 .
2017 Marchant,T.W.,Johnson,E.J.,McTeir,L.,Johnson,C.I.,Gow,A.,Liuti,T.,Kuehn,D.,Svenson,K.,Bermingham,M.L.,Drögemüller,M.,Nussbaumer,M.,Davey,M.G.,Argyle,D.J.,Powell,R.M.,Guilherme,S.,Lang,J.,TerHaar,G.,Leeb,T.,Schwarz,T.,Mellanby,R.J.,Clements,D.N.,Schoenebeck,J.J.: :
Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2. Curr Biol 27:1573-1584.e6, 2017.
Pubmed reference: 28552356 . DOI: 10.1016/j.cub.2017.04.057 .
2016 Anon.: :
Brachycephaly: an issue for cats as well as dogs. Vet Rec 179:371, 2016.
Pubmed reference: 27738208 . DOI: 10.1136/vr.i5507 .
2013 Arnold,T.S.,Wittenburg,L.A.,Powell,C.C.: :
Effect of topical naltrexone 0.3% on corneal sensitivity and tear parameters in normal brachycephalic dogs. Vet Ophthalmol :, 2013.
Pubmed reference: 23802568 . DOI: 10.1111/vop.12079 .
2013 Knight,S.M.,Radlinsky,M.G.,Cornell,K.K.,Schmiedt,C.W.: :
Postoperative Complications Associated with Caudectomy in Brachycephalic Dogs with Ingrown Tails. J Am Anim Hosp Assoc :, 2013.
Pubmed reference: 23690492 . DOI: 10.5326/JAAHA-MS-5858 .
2013 Roedler,F.S.,Pohl,S.,Oechtering,G.U.: :
How does severe brachycephaly affect dog's lives? Results of a structured preoperative owner questionnaire. Vet J :, 2013.
Pubmed reference: 24176279 . DOI: 10.1016/j.tvjl.2013.09.009 .
2012 Schoenebeck,J.J.,Hutchinson,S.A.,Byers,A.,Beale,H.C.,Carrington,B.,Faden,D.L.,Rimbault,M.,Decker,B.,Kidd,J.M.,Sood,R.,Boyko,A.R.,Fondon,J.W.,Wayne,R.K.,Bustamante,C.D.,Ciruna,B.,Ostrander,E.A.: :
Variation of BMP3 contributes to dog breed skull diversity. PLoS Genet 8:e1002849, 2012.
Pubmed reference: 22876193 . DOI: 10.1371/journal.pgen.1002849 .
2011 Quilez,J.,Short,A.D.,Martínez,V.,Kennedy,L.J.,Ollier,W.,Sanchez,A.,Altet,L.,Francino,O.: :
A selective sweep of >8 Mb on chromosome 26 in the Boxer genome. BMC Genomics 12:339, 2011.
Pubmed reference: 21722374 . DOI: 10.1186/1471-2164-12-339 .
2010 Bannasch,D.,Young,A.,Myers,J.,Truvé,K.,Dickinson,P.,Gregg,J.,Davis,R.,Bongcam-Rudloff,E.,Webster,M.T.,Lindblad-Toh,K.,Pedersen,N.: :
Localization of canine brachycephaly using an across breed mapping approach. PLoS One 5:e9632, 2010.
Pubmed reference: 20224736 . DOI: 10.1371/journal.pone.0009632 .
2010 Boyko,A.R.,Quignon,P.,Li,L.,Schoenebeck,J.J.,Degenhardt,J.D.,Lohmueller,K.E.,Zhao,K.,Brisbin,A.,Parker,H.G.,vonHoldt,B.M.,Cargill,M.,Auton,A.,Reynolds,A.,Elkahloun,A.G.,Castelhano,M.,Mosher,D.S.,Sutter,N.B.,Johnson,G.S.,Novembre,J.,Hubisz,M.J.,Siepel,A.,Wayne,R.K.,Bustamante,C.D.,Ostrander,E.A.: :
A simple genetic architecture underlies morphological variation in dogs. PLoS Biol 8:e1000451, 2010.
Pubmed reference: 20711490 . DOI: 10.1371/journal.pbio.1000451 .
2010 Oechtering,G.U.,Schlüter,C.,Lippert,J.P.: :
[Brachycephaly in dog and cat: a "human induced" obstruction of the upper airways]. Pneumologie 64:450-2, 2010.
Pubmed reference: 20632241 . DOI: 10.1055/s-0030-1255513 .
2009 Hünemeier,T.,Salzano,F.M.,Bortolini,M.C.: :
TCOF1 T/Ser variant and brachycephaly in dogs. Anim Genet 40:357-8, 2009.
Pubmed reference: 19220226 . DOI: 10.1111/j.1365-2052.2008.01838.x .
2001 Haworth,KE.,Islam,I.,Breen,M.,Putt,W.,Makrinou,E.,Binns,M.,Hopkinson,D.,Edwards,Y.: :
Canine TCOF1; cloning, chromosome assignment and genetic analysis in dogs with different head types. Mamm Genome 12:622-9, 2001.
Pubmed reference: 11471057 .