Autosomal dominant mutation causing the dorsal ridge predisposes for dermoid sinus in Rhodesian ridgeback dogs

Hillbertz, N. H. C. Salmon; Andersson, Gerhard

doi:10.1111/j.1748-5827.2006.00016.x

Cited by 27 publications

(24 citation statements)

References 4 publications

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“…Hillbertz et al identified a 133 Kb duplication on chromosome 18 that associated perfectly with the presence of the ridge of hair growing in the opposite direction along the spine of the Rhodesian ridgeback (62). In addition, Drögmüller and colleagues found a frameshift variant in the FOXI3 gene that segregated with the hairless phenotype, also called ectodermal dysplasia (CED), in the Chinese crested breed (37).…”

Section: Morphology and Breedsmentioning

confidence: 99%

Man's Best Friend Becomes Biology's Best in Show: Genome Analyses in the Domestic Dog

2010

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In the last five years, canine genetics has gone from map construction to complex disease deconstruction. The availability of a draft canine genome sequence, dense marker chips, and an understanding of the genome architecture has changed the types of studies canine geneticists can undertake. There is now a clear recognition that the dog system offers the opportunity to understand the genetics of both simple and complex traits, including those associated with morphology, disease susceptibility, and behavior. In this review, we summarize recent findings regarding canine domestication and review new information on the organization of the canine genome. We discuss studies aimed at finding genes controlling morphological phenotypes and provide examples of the way such paradigms may be applied to studies of behavior. We also discuss the many ways in which the dog has illuminated our understanding of human disease and conclude with a discussion on where the field is likely headed in the next five years.

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Section: Morphology and Breedsmentioning

confidence: 99%

Man's Best Friend Becomes Biology's Best in Show: Genome Analyses in the Domestic Dog

2010

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“…The breed-defining characteristic is a dorsal ridge, caused by a lateral instead of caudal orientation of the hair in this region (10). The RR reflects a mixture of several European dog breeds and the local ridged Hottentot Khoi dog and was initially bred for lion hunting (10,11). The presence of multiple affected dogs with a distinct phenotype in many litters proposed an inherited condition, which warranted us to embark a comprehensive study to describe the clinical features and find the genetic cause.…”

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confidence: 99%

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

Wielaender

Sarviaho

James

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

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The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described. A fully penetrant recessive 4-bp deletion was identified in the DIRAS family GTPase 1 (DIRAS1) gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal DIRAS1 gene with a proposed role in cholinergic transmission provides not only a candidate for human myoclonic epilepsy but also insights into the disease etiology, while establishing a spontaneous model for future intervention studies and functional characterization.seizure | juvenile | canine | photosensitivity | Ras

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“…Dermoid sinus is considered a hereditary neural tube abnormality in Rhodesian Ridgebacks [39,40]. Their characteristic cutaneous ridge in this breed is an autosomal dominant mutation of fibroblast growth factor genes that predispose the animals to dermoid sinus [39,40].…”

Section: Discussionmentioning

confidence: 99%

“…Their characteristic cutaneous ridge in this breed is an autosomal dominant mutation of fibroblast growth factor genes that predispose the animals to dermoid sinus [39,40]. This developmental abnormality has been reported in several other breeds, including the American Cocker Spaniel, English Cocker Spaniel, English Springer Spaniel, Boxer, Chow-Chow, Golden Retriever, Shih Tzu, Siberian Husky, Yorkshire Terrier, German Shepherd, Rottweiler, Boerboel, Great Pyrenees, Swedish Vallhund, Chinese Crested, Victorian Bulldog, and occasionally in domestic cats [6-8,11-14,16,17,41-46].…”

Section: Discussionmentioning

confidence: 99%

Spinal dermoid sinus in a Dachshund with vertebral and thoracic limb malformations

et al. 2014

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BackgroundDermoid sinus is an uncommon epithelial-lined fistula that may be associated with vertebral malformations. In humans, Klippel-Feil syndrome (KFS) is a rare condition characterized by congenital cervical vertebral fusion and may be associated with other developmental defects, including dermoid sinus. The present case report describes an adult Dachshund with cervical and cranial thoracic vertebral malformations as well as thoracic limb malformations resembling KFS with a concurrent type IV dermoid sinus.Case presentationA 1.5 year-old Dachshund with congenital thoracic limbs deformities and cervical-thoracic vertebral malformations presented with cervical hyperesthesia, rigidity of the cervical musculature and tetraparesis. Neurologic, radiographic, and computed tomography (CT) (2D, 3D, CT fistulography) examinations revealed skeletal anomalies, a dermoid sinus in the cranial thoracic region and epidural gas within the vertebral canal. Surgical resection and histopathological evaluation of the sinus tract were performed and confirmed a type IV dermoid sinus. The clinical signs progressively recovered postoperatively, and no recurrent signs were observed after 6 months of follow-up.ConclusionsCervical vertebral malformations associated with limbs anomalies have not been reported in dogs and may represent a condition similar to KFS in humans. KFS can occur concurrently with other congenital conditions including dermoid sinus and should be included among the complex congenital anomalies described in dogs.

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Autosomal dominant mutation causing the dorsal ridge predisposes for dermoid sinus in Rhodesian ridgeback dogs

Abstract: Rhodesian ridgeback dogs that carry the ridge trait are predisposed to dermoid sinus.

Cited by 27 publications

References 4 publications

Man's Best Friend Becomes Biology's Best in Show: Genome Analyses in the Domestic Dog

Man's Best Friend Becomes Biology's Best in Show: Genome Analyses in the Domestic Dog

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

Spinal dermoid sinus in a Dachshund with vertebral and thoracic limb malformations

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