title: No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population.
abstract: BACKGROUND
  Cryptorchidism is the most common genital anomaly in men. The INSL3/LGR8 system is involved in testicular descent via gubernacular development. INSL3 binds with high affinity to its receptor LGR8 and receptor activation is associated with cAMP signaling. Analysis of human INSL3 and LGR8 mutations confirms that some cases of cryptorchidism are caused by mutations in these genes. The T222P mutation is the only one within the LGR8 gene associated with the cryptorchidism phenotype. A strong association of the T222P mutation with cryptorchidism was found in an Italian population. Due to the same mutation being found in patients within the Mediterranean area, a possible founder effect of this mutation is supposed.
  
  
  METHODS
  We screened 109 patients with cryptorchidism and 250 controls in a Moroccan population.
  
  
  RESULTS
  We found that 3 of the 109 patients tested carry the T222P mutation and 4 individuals in the control group also carry the mutation.
  
  
  CONCLUSIONS
  Our results show in fact that the same mutation is present in the Moroccan population, but an association between cryptorchidism and the T222P mutation was not found.
authors.affiliation: Human Genetic Laboratory, Pasteur Institute of Morocco, Casablanca, Morocco.
authors.forename: Brahim
authors.initials: B
authors.lastname: El Houate
authors.forename: Hassan
authors.initials: H
authors.lastname: Rouba
authors.forename: Laila
authors.initials: L
authors.lastname: Imken
authors.forename: Hicham
authors.initials: H
authors.lastname: Sibai
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Chafik
authors.forename: Redouane
authors.initials: R
authors.lastname: Boulouiz
authors.forename: Elbakkay
authors.initials: E
authors.lastname: Chadli
authors.forename: Mohmmed
authors.initials: M
authors.lastname: Hassar
authors.forename: Ken
authors.initials: K
authors.lastname: McElreavey
authors.forename: Abdelhamid
authors.initials: A
authors.lastname: Barakat
mesh_terms: D019943:Amino Acid Substitution; D003456:Cryptorchidism / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D000242:Cyclic AMP / Q000235:genetics / Q000378:metabolism; D018703:Founder Effect; D006801:Humans; D007328:Insulin / Q000235:genetics / Q000378:metabolism; D008297:Male; D009018:Morocco; D020125:Mutation, Missense; D011506:Proteins / Q000235:genetics / Q000378:metabolism; D043562:Receptors, G-Protein-Coupled / Q000235:genetics* / Q000378:metabolism; D015398:Signal Transduction / Q000235:genetics
chemical_list: D007328:Insulin; C084797:Leydig insulin-like protein; D011506:Proteins; C472867:RXFP2 protein, human; D043562:Receptors, G-Protein-Coupled; D000242:Cyclic AMP