Investigation of Cerebellar Abiotrophy (CA), Lavender Foal Syndrome (LFS), and Severe Combined Immunodeficiency (SCID) Variants in a Cohort of Three MENA Region Horse Breeds

Ayad, Abdelhanine; Almarzook, Saria; Besseboua, Omar; Aissanou, Sofiane; Piórkowska, Katarzyna; Musiał, Adrianna D; Stefaniuk‐Szmukier, Monika; Ropka‐Molik, Katarzyna

doi:10.3390/genes12121893

Cited by 1 publication

(1 citation statement)

References 21 publications

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“…The LFS condition in Egypt was previously reported on an Arabian farm, where four out of eight suspected horses were harbouring the mutant variant. 4 On the other hand, Ayad et al 17 analysed 177 samples obtained from three horse breeds belonging to the Middle East and North Africa regions and found none of them had this lethal condition. This genetic defect, however, has not been detected in the Arabian horse populations of Syria, 18 Poland 10 and Turkey, 11 suggesting that this deadly mutation has still not been introduced in some populations.…”

Section: Discussionmentioning

confidence: 99%

Evidence for origin of lavender foal syndrome among Egyptian Arabian horses in Egypt

Ela

Araby

Saleh

et al. 2022

Equine Veterinary Journal

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Background Lavender foal syndrome (LFS) is a fatal hereditary condition that is inherited in an autosomal recessive pattern. This detrimental mutation is more common in Arabian foals of Egyptian origin than foals from other bloodlines. Heterozygous horses are carriers of the LFS trait and appear normal, while recessive homozygous foals died shortly after birth due to serious complications. In Egypt, in 2014, an Egyptian foal died after manifestations of neurological signs and abnormal coat colour as LFS signs. Therefore, it is important to identify LFS carriers in the population of Arabian horses in Egypt and to encourage improvement of the Arabian horse industry in Egypt by constructing a breeding system based on genetic background in order to avoid mating between carriers and reduce financial losses from deaths of affected foals. Objectives To establish a PCR‐based test for detecting the MYO5A gene mutation causing LFS in the registered Arabian horse population in Egypt prior to breeding. Study design Cross sectional survey (n = 170) plus targeted sampling (n = 30). Methods A total of 200 samples were collected from an Arabian farm in Egypt and some of them were traced for LFS based on the farm records. The LFS genotypes were identified using the PCR‐RFLP technique, fragment analysis followed by sequence analysis. Results The overall mutated allele and genotype frequencies (N/L) were 0.08 and 16%, respectively. Conclusion The observed frequency of heterozygotes suggests foals affected with LFS will be produced among Arabian horses in Egypt. Therefore, screening of the entire population for this mutation should be undertaken in the breeding program.

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