| Yazarlar |
Nüket Bilgen
Ankara Üniversitesi, Türkiye |
|
Bengi Çınar Kul
Ankara Üniversitesi, Türkiye |
|
Mustafa Yenal Akkurt
Ankara Üniversitesi, Türkiye |
|
Caner Bakıcı
Türkiye |
|
Buckley Reuben
Türkiye |
|
Leslıe Lyons
Türkiye |
|
Coghıll Lyndon
Türkiye |
Dr. Öğr. Üyesi Özge Şebnem ÇILDIR
Kafkas Üniversitesi, Türkiye |
|
Furkan Kutlu
Türkiye |
| Özet |
| The present study aimed to determine the inheritance pattern and genetic cause of congenital radial hemimelia (RH) in cats. Clinical and genetic analyses were conducted on a Siamese cat family (n = 18), including two siblings with RH. Radiographs were obtained for the affected kittens and echocardiograms of an affected kitten and sire. Whole genome sequencing was completed on the two cases and the parents. Genomic data were compared with the 99 Lives Cat Genome data set of 420 additional domestic cats with whole genome and whole exome sequencing data. Variants were considered as homozygous in the two cases of the siblings with RH and heterozygous in the parents. Candidate variants were genotyped by Sanger sequencing in the extended pedigree. Radiographs of the female kitten revealed bilateral absence of the radii and bowing of the humeri, while the male kitten showed a dysplastic right radius. Echocardiography suggested the female kitten had restrictive cardiomyopathy with a positive left atrial-to-aortic root ratio (LA:Ao = 1.83 cm), whereas hypertrophic cardiomyopathy was more likely in the sire, showing diastolic dysfunction using tissue Doppler imaging (59.06 cm/s). Twenty-two DNA variants were unique and homozygous in the affected kittens and heterozygous in the parents. Seven variants clustered in one chromosomal region, including two frameshift variants in () and five variants in , ( ), including a missense and an in-frame deletion. The present study suggested an autosomal recessive mode of inheritance with variable expression for RH in the Siamese cat family. Candidate variants for the phenotype were identified, implicating their roles in bone development. These genes should be considered as potentially causal for other cats with RH. Siamese cat breeders should consider genetically testing their cats for these variants to prevent further dissemination of the suspected variants within the breed. |
| Anahtar Kelimeler |
| Domestic cat | Felis catus | radial dysplasia | precision medicine | whole genome sequencing |
| Makale Türü | Özgün Makale |
| Makale Alt Türü | SSCI, AHCI, SCI, SCI-Exp dergilerinde yayımlanan tam makale |
| Dergi Adı | JOURNAL OF FELINE MEDICINE AND SURGERY |
| Dergi ISSN | 1098-612X |
| Dergi Tarandığı Indeksler | SCI-Expanded |
| Dergi Grubu | Q2 |
| Makale Dili | İngilizce |
| Basım Tarihi | 10-2023 |
| Cilt No | 25 |
| Sayı | 10 |
| Doi Numarası | 10.1177/1098612X231193557 |
| Makale Linki | http://dx.doi.org/10.1177/1098612x231193557 |
| Atıf Sayıları | |
| WoS | 1 |
