GENETIC NEWSLETTER

Crufts 2016 Primary Hyperoxaluria type I (PH I) Coton de Tulear Crufts is only few weeks away and for us, it is very exciting time of year because we get the opportunity to meet you face Primary Hyperoxaluria ( PH I) is an in- to face and to discuss your DNA testing requirements and herited disease affecting the Coton de to answer any questions you have. Back in September 2015 Tulear breed and it is characterised by we reduced our standard prices by more than 10% and now the build up of excess calcium oxalate at Crufts 2016 our ever popular 10% Crufts discount will be in a number of tissues, in particular in there for you as an opportunity not to be missed. Visit us at the the kidney where where calcium Crufts 2016, Hall 3 Stand 7A. oxalate stones form leading to progres- sive kidney failure. The crystals also accumulate in other tis- Gallbladder Mucoceles sues including bones, joints, cartilage, retina and muscles. American Cocker Spaniel, Cairn Terrier, English Cocker Symptoms include intense abdominal pain radiating to the groin, blood can be seen in the urine, and the passage of Spaniel, and Pomeranian kidney stones. Gallbladder Mucocele is an abnormally distended gallblad- der containing a buildup of luminal mucus leading to inflam- Congenital Ichthyosis in Great Dane mation (cholecystitis) and possible rupture of the gallbladder. Symptoms include vomiting, jaundice, loss of appetite, leth- Congenital Ichthyosis / Great Dane Ichthyosis is an inherited argy, polyuria, polydipsia, and diarrhea. The trait of inherit- disorder characterised by generalized severe hyperkerato- ance is autosomal dominant with incomplete penetrance, sis and the formation of a strongly wrinkled, thickened and which means that only one copy of the mutation can put the scaly skin especially in the region of the eyes and nose. The at risk of developing the disease, however, not all skin becomes dry and loses its elasticity becoming licheni- with one copy of the mutation have developed the disease. A fied with an untidy appearance. The skin around the eyes DNA test is now available for Gallbladder Mucocele. becomes swollen and impedes the opening of the puppy’s eyes in some cases. In-between the wrinkles the exudative Alaskan Husky Encephalopathy (AHE) character of the skin promotes secondary infections. Patho- histological examinations indicated a congenital non-epider- molytic ichthyosis of a lamellar type. Alaskan Husky Encephalopathy is an inherited brain disease characterised by seizures, trouble walking, a high stepping gait, trouble eating, and visual problems. The disease usually Neuroaxonal Dystrophy ( NAD ) affects young dogs and is eventually fatal, although some dogs may live for months to years before the signs progress. Trait of inheritance is autosomal recessive and a DNA test is Neuroaxonal Dystrophy is an uncharacterized juvenile-onset now available. genetic disorder that affects Spanish Water Dogs. Affected dogs exhibit various neurological deficits including gait ab- Cerebral Dysfunction in Stabyhoun normalities and behavioral deficits. Symptoms include slow- ly progressing neurological signs starting between six and Cebral Dysfunction is a neurological in- eleven months of age. Owners of affected dogs reported herited disorder affecting the Stabyhoun gait abnormalities, behavioral changes (dullness, nervous- breed. Symptoms start around 6 weeks ness, vocalization) and incontinence alone or in combination of age and characterised by compulsive with uncontrolled defecation. Mild head tilt, generalized mild behaviour such as repetitive movements, cerebellar ataxia with hypermetria of the walking back and forth and in circles, af- thoracic limbs and absent to depressed fected puppies also have an excessive patellar reflexes. Additionally, affected urge to move, they do not eat independ- dogs displayed varying degrees of com- ently and become emaciated and die or pulsory pacing, proprioceptive deficits, euthenised within a few months. Trait of inheritance is au- decreased menace, visual deficits, posi- tosomal recessive and a DNA test is now available to help tional nystagmus and decreased muscle breeder avoid having affected puppies. tone. www.LABOKLIN .co.uk LABOKLIN UK & IRELAND 125 Northenden Rd, Manchester, M33 3HF, United Kingdom Tel: 0161 2823066 email [email protected] GENETIC NEWSLETTER

Adult Onset Neuropathy (AON)* Our test can detect both regular merle and cryptic merle. English Cocker Spaniel and Field Spaniel Breeds: American Cocker Spaniel, , Adult Onset Neuropathy is an inherited disease, which symp- Border , Chihuahua, Dachshund, Old English Sheep- toms resemble those of degenerative myelopathy. Clinical dog (Bobtail), Shetland Sheepdog (Sheltie), Cardigan Welsh signs appear typically between 7.5 Corgi, , , Pomeranian, Great Dane and 9 years of age in the form of unco- Pyrenean Shepherd, Bobtail, American Staffordshire Terrier, ordinated gait and wobbly hind legs. Hungarian , , Norwegian Dun- The weakening progresses over time, ker, , Bergamasco. affecting the forelimbs and eventually leads to swallowing difficulties. The Saddle Tan Coat Pattern neurological disorders increasingly and Bassett worsen over the course of two to four years, but slower than in DM. The Saddle Tan pattern is characterised by a red-based pig- ment on the head, tail, front and hind limbs, often reaching Progressive Retinal Atrophy (rcd2 PRA) up to the dorsal surface at the withers and hips. Black-based Rough and Smooth Collie new price pigment is confined primarily to a saddle-shaped patch on the back. The saddle tan pattern develops as the dog ages from We are pleased to announce that the rcd2 form of PRA (Pro- a puppy to a mature adult dog. When the puppy is young, the gressive Retinal Atrophy) in Rough and colour pattern looks very similar to the traditional black-and- Smooth Collie is now tested in house and tan phenotype, with black-based pigment over the majority therefore the price is now reduced to £48 of the body and head of the dog, and red-based pigment incl VAT. Results in Rough Collie can be restricted to distinct points on the muzzle, “eyebrows,” lower sent to the Kennel Club and published as limbs, chest, and beneath the tail. As the dog matures, the part of DNA testing scheme. tan areas gradually expand, reducing the area expressing black-based colour and producing the characteristic black saddle. Merle Coat Pattern M Locus, Dapple, Cryptic Merle Other New DNA tests recently added A DNA test is available for the merle gene which dilutes ran- Glycogen storage disease type Ia (GSD Ia) / von Grieke dom parts of the coat colour to a lighter shade, black to gray Disease in Maltese. or blue, brown to lighter patches. The merled patches have Hemorragic Diathesis / Bleeding Diathesis irregular edges and can be anywhere on the head, body and (Canine Scott Syndrome) in legs resulting in the merle coat Dwarfism ( Chondrodysplasia ) in Norwegian Elkhound pattern. Merle can also affect the and Karelian Bear Dog. eyes, nose and paw pads. Merle May-Hegglin Anomaly (MHA) in Pug. is a dominant gene and so a dog Ichthyosis ( Epidermolytic Hyperkeratosis (EHK) ) in with one copy of the merle gene Norfolk Terrier will be merle, a dog with two cop- Special Offer: Ichthyosis + GR-PRA1 + GR-PRA2 in ies of the merle is called double Golden Retriever only £108 incl VAT. merle. Double merle is associated Mucopolysaccharidosis type IIIa (MPS IIIA) in New with health problems such as deafness and blindness as well Zealand Huntaway Dog as sun sensitivity and skin cancer, and therefore breeders Muscular Dystrophy (MDL) in Landseer should avoid breeding merle to merle. Amelogenesis Imperfecta (AI) / Familial Enamel Hidden Merle: Merle can be hidden which means that you Hypoplasia (FEH) in Italian Greyhound cannot visually tell if the dog is merle or not and therefore you Vitamin D-dependent Rickets (HVDRR) in Pomeranian may mate merle to merle producing double merle puppies Postoperative Hemorrhage in Great Swiss Mountain Dog without realising. There are two types of hidden merle, first if Glanzmann Thrombasthenia in Great Pyrenees the dog’s coat colour is either yellow, red, sable, fawn, gold Prekallikrein Deficiency (KTK) in Shih Tzu or cream, it cannot be seen because it is only expressed on C3 Deficiency in Brittany eumelanin (black, brown, blue, lilac) but not on pheomelanin, Congenital Myasthenic Syndrome (CMS) in Labrador, the only way to find out if your dog has merle is by testing. Jack & Parson Russel terriers and Old Danish Pointing The second type of hidden merle is called cryptic merle which Bardet Biedl Syndrome (BBS) in Hungarian Puli is a short version of merle with very small merling effect if GM2 Gangliosidosis Variant 0 in Toy Poodle any. Cryptic merle is not associated with health problems but Macrothrombocytopenia (MTC) in several breeds when bred it may well expand to regular merle in the puppies, Renal Cystadenocarcinoma and Nodular Dermatofibro- so it should be treated the same as regular merle and dogs sis (RCND) in German Shepherd with cryptic merle should only be bred to dogs with no merle. X-linked Myotubular Myopathy in Labrador & Rottweiler

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