title: Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3.
abstract: BACKGROUND
  Pituitary dwarfism in German Shepherd Dogs is associated with autosomal recessive inheritance and a mutation in LHX3, resulting in combined pituitary hormone deficiency. Congenital dwarfism also is encountered in breeds related to German Shepherd Dogs, such as Saarloos and Czechoslovakian wolfdogs.
  
  
  OBJECTIVE
  To investigate whether Saarloos and Czechoslovakian wolfdog dwarfs have the same LHX3 mutation as do Germans Shepherd Dog dwarfs. A specific aim was to determine the carrier frequency among Saarloos and Czechoslovakian wolfdogs used for breeding.
  
  
  METHODS
  Two client-owned Saarloos wolfdogs and 4 client-owned Czechoslovakian wolfdogs with pituitary dwarfism, 239 clinically healthy client-owned Saarloos wolfdogs, and 200 client-owned clinically healthy Czechoslovakian wolfdogs.
  
  
  METHODS
  Genomic DNA was amplified using polymerase chain reaction (PCR). In the Saarloos and Czechoslovakian wolfdog dwarfs, PCR products were analyzed by sequencing. DNA fragment length analysis was performed on the samples from the clinically healthy dogs.
  
  
  RESULTS
  Saarloos and Czechoslovakian wolfdog dwarfs have the same 7 bp deletion in intron 5 of LHX3 as do German Shepherd Dog dwarfs. The frequency of carriers of this mutation among clinically healthy Saarloos and Czechoslovakian wolfdogs used for breeding was 31% and 21%, respectively.
  
  
  CONCLUSIONS
  An LHX3 mutation is associated with pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs. The rather high frequency of carriers of the mutated gene in the 2 breeds emphasizes the need for screening before breeding. If all breeding animals were genetically tested for the presence of the LHX3 mutation and a correct breeding policy would be implemented, this disease could be eradicated completely.
authors.affiliation: Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands.
authors.forename: A M W Y
authors.initials: AM
authors.lastname: Voorbij
authors.forename: P A
authors.initials: PA
authors.lastname: Leegwater
authors.forename: H S
authors.initials: HS
authors.lastname: Kooistra
mesh_terms: D000818:Animals; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs / Q000235:genetics; D004393:Dwarfism, Pituitary / Q000235:genetics / Q000662:veterinary*; D005260:Female; D056726:Genetic Association Studies / Q000662:veterinary; D013006:Growth Hormone / Q000097:blood; D006579:Heterozygote; D007334:Insulin-Like Growth Factor I / Q000032:analysis; D060850:LIM-Homeodomain Proteins / Q000235:genetics*; D008297:Male; D017384:Sequence Deletion / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D060850:LIM-Homeodomain Proteins; C094898:Lhx3 protein; D014157:Transcription Factors; D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone
keywords: Canine; Genetic testing; Growth hormone; Mutation