The detail information of Cataract, early onset
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2006

Species-specific name: Primary hereditary cataract

Species-specific symbol: PHC

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB16 Australian Shepherd 50.8-58.4 cm (male), 45.7-53.3 cm (female) 24.9-31.8 kg (male), 15.9-24.9 kg (female) United States
CB46 Boston Terrier 38.1-43.2 cm 4.5-11.3 kg United States
CB234 Staffordshire Bull Terrier 35.6-40.6 cm 12.7-17.2 kg (male), 10.9-15.4 kg (female) United Kingdom (England)
Associated Gene
Symbol Description Species Position Other Links
HSF4 heat shock transcription factor 4 Canis lupus familiaris Chr5 : 82635528 - 82626129 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.
2019 Lewis,T.W.,Mellersh,C.S.: :
Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One 14:e0209864, 2019.
Pubmed reference: 30650096 . DOI: 10.1371/journal.pone.0209864 .
2015 Ricketts,S.L.,Pettitt,L.,McLaughlin,B.,Jenkins,C.A.,Mellersh,C.S.: :
A novel locus on canine chromosome 13 is associated with cataract in the Australian Shepherd breed of domestic dog. Mamm Genome :, 2015.
Pubmed reference: 25894238 . DOI: 10.1007/s00335-015-9562-2 .
2013 Bellumori,T.P.,Famula,T.R.,Bannasch,D.L.,Belanger,J.M.,Oberbauer,A.M.: :
Prevalence of inherited disorders among mixed-breed and purebred dogs: 27,254 cases (1995-2010). J Am Vet Med Assoc 242:1549-55, 2013.
Pubmed reference: 23683021 . DOI: 10.2460/javma.242.11.1549 .
2009 Mellersh,CS.,Mclaughlin,B.,Ahonen,S.,Pettitt,L.,Lohi,H.,Barnett,KC.: :
Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd. Vet Ophthalmol 12:372-8, 2009.
Pubmed reference: 19883468 . DOI: 10.1111/j.1463-5224.2009.00735.x .
2008 Müller,C.,Wöhlke,A.,Distl,O.: :
Evaluation of canine heat shock transcription factor 4 (HSF4) as a candidate gene for primary cataracts in the Dachshund and the Entlebucher Mountain dog. Vet Ophthalmol 11:34-7, 2008.
Pubmed reference: 18190350 . DOI: 10.1111/j.1463-5224.2007.00598.x .
2007 Engelhardt,A.,Wöhlke,A.,Distl,O.: :
Evaluation of canine heat-shock transcription factor 4 as a candidate for primary cataracts in English Cocker Spaniels and wire-haired Kromfohrlanders. J Anim Breed Genet 124:242-5, 2007.
Pubmed reference: 17651328 . DOI: 10.1111/j.1439-0388.2007.00663.x .
2007 Mellersh,CS.,Graves,KT.,Mclaughlin,B.,Ennis,RB.,Pettitt,L.,Vaudin,M.,Barnett,KC.: :
Mutation in HSF4 associated with early but not late-onset hereditary cataract in the Boston Terrier. J Hered 98:531-3, 2007.
Pubmed reference: 17611257 . DOI: 10.1093/jhered/esm043 .
2006 Mellersh,CS.,Pettitt,L.,Forman,OP.,Vaudin,M.,Barnett,KC.: :
Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts. Vet Ophthalmol 9:369-78, 2006.
Pubmed reference: 16939467 . DOI: 10.1111/j.1463-5224.2006.00496.x .
1978 Barnett,KC.: :
Hereditary cataract in the dog. J Small Anim Pract 19:109-20, 1978.
Pubmed reference: 642468 .
1976 Barnett,K.C.: :
Comparative aspects of canine hereditary eye disease. Adv Vet Sci Comp Med 20:39-67, 1976.
Pubmed reference: 827198 .