Head Defect
Head Defect
General description
The mutation causing the Burmese Head Defect affects function of a gene significant for facial development. One copy of the mutation does not cause the craniofacial defect but may produce a shortened facial structure (brachycephaly). Cats with two copies of the mutation have the severe craniofacial defect that is incompatible with life
Breeds
Burmese
Order details
| Test number | 8465 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | skeletal |
| Inheritance | see Infotext |
| Causality | causally |
| Gene | ALX1 |
| Mutation | DEL |
| Literature | OMIA:001551-9685 |
Detailed description
The Burmese Head Defect is a congenital malformation of the head and face (craniofacial) that is widespread in modern Burmese cat lines. The causal genetic variant was discovered by the Lyons Feline Genetics Research Laboratory at UC Davis and affects a gene that plays an important role in facial development.
One copy of the variant (heterozygous) does not cause malformation but is often responsible for a shortened facial skull (brachycephaly). Cats that inherit the variant from both parents (homozygous) have severe malformations and are not viable.
