BACKGROUND: @entity1646 ( @entity1646 ) are common @entity2315 causing typically progressive skeletal and @entity735 . OBJECTIVES: To describe the clinic features, metabolic profile and a unique mutation in a domestic shorthair (DSH) kitten with @entity1646 . ANIMALS: Affected kitten and 80 healthy cats. METHODS: Serum lysosomal enzyme activities and urinary glycosaminoglycan (GAG) accumulation were assessed. Exons of the b-glucuronidase gene ( @entity70405 ) were sequenced from genomic DNA and genotyping was conducted. RESULTS: A 3-month-old DSH cat was presented for stunted growth, paresis, @entity2652 , multiple @entity85 , and corneal opacities. Evaluation of blood smears disclosed metachromatic granules in leukocytes and a urinary mucopolysaccharide spot test was positive. The proband had no @entity70405 activity but normal or increased activities for other lysosomal enzymes. Sequencing of the @entity70405 gene from the proband and comparison to the sequence of 2 healthy @entity468 and the published feline genome sequence demonstrated 2 unique single base transitions ( @entity70406 and @entity70407 ) in exon 9, altering 2 adjacent codons ( @entity70408 and @entity70409 ). These @entity3689 changes are in a highly conserved domain of the @entity70405 protein and nontolerable to maintain function. Moreover, the @entity70409 mutation previously has been identified in @entity1 @entity1 . None of the other clinically healthy @entity468 had these mutations. CONCLUSIONS AND CLINIC IMPORTANCE: The diagnostic approach to @entity74 is delineated. This is only the second mutation known to cause @entity1646 in @entity468 . Similarly, 2 different mutations have been described in @entity1646 @entity235 , thereby showing the molecular heterogeneity of @entity1646 in companion animals.

Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the XXXX Gene.

@entity2315 :: ('MESH:D016464', 'Disease') :: ['lysosomal storage disorders'] @entity1 :: ('9606', 'Species') :: ['human', 'patients'] @entity70409 :: ('p|SUB|R|476|W', 'ProteinMutation') :: ['p.Arg476Trp'] @entity2652 :: ('MESH:D005148', 'Disease') :: ['facial dysmorphia'] @entity70405 :: ('493879(Tax:9685)', 'Gene') :: ['GUSB'] @entity235 :: ('9615', 'Species') :: ['dogs'] @entity70406 :: ('c|SUB|T|1421|G', 'DNAMutation') :: ['c.1421T>G'] @entity468 :: ('9685', 'Species') :: ['cats'] @entity70407 :: ('c|SUB|C|1424|T', 'DNAMutation') :: ['c.1424C>T'] @entity735 :: ('MESH:D005124', 'Disease') :: ['ocular abnormalities'] @entity1646 :: ('MESH:D009083', 'Disease') :: ['Mucopolysaccharidoses', 'MPS', 'MPS VII'] @entity74 :: ('MESH:D030342', 'Disease') :: ['MPS disorders'] @entity70408 :: ('p|SUB|S|475|A', 'ProteinMutation') :: ['p.Ser475Ala'] @entity85 :: ('MESH:D009140', 'Disease') :: ['skeletal deformities'] @entity3689 :: ('D000596', 'Chemical') :: ['amino acid']
@entity70405 :: (493879(Tax:9685),Gene) :: ['GUSB']
