Hereditary Cataracts (Juvenile)

View All DNA Tests

Related Terms: Early Onset Cataracts, HC, HSF4, JC, JHC

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

Within weeks to months of birth

View Sample Collection and Shipping Instructions

Sample Processing

Cost: $55.00

Species and Breeds
Canine - Boston Terrier
Canine - French Bulldog
Canine - Stafford Bull Terrier

Order Test We do not provide kits. Please collect the sample following the sample collection and shipping instructions before ordering a test.

Bilateral cataract growth progresses to blindness in 2–3 years

Normal

Autosomal recessive

Cataracts

HSF4 and NM_001048121.1:c.971_972insC

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with Hereditary Cataracts (Juvenile) and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous) Healthy (Carrier) Heterozygous Carriers (1-2) are not expected to develop signs of Hereditary Cataracts (Juvenile) but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal) Healthy (Normal, Clear) Homozygous Normals (1-1) are not expected to develop signs of Hereditary Cataracts (Juvenile) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

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. 2009 Nov-Dec;12(6):372-8. doi: 10.1111/j.1463-5224.2009.00735.x. PMID: 19883468. 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. 2007;98(5):531-3. doi: 10.1093/jhered/esm043. Epub 2007 Jul 4. PMID: 17611257. 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. 2006 Sep-Oct;9(5):369-78. doi: 10.1111/j.1463-5224.2006.00496.x. PMID: 16939467.