No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population.
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.
El Houate
Brahim
B
Human Genetic Laboratory, Pasteur Institute of Morocco, Casablanca, Morocco.
Rouba
Hassan
H
Imken
Laila
L
Sibai
Hicham
H
Chafik
Abdelaziz
A
Boulouiz
Redouane
R
Chadli
Elbakkay
E
Hassar
Mohmmed
M
McElreavey
Ken
K
Barakat
Abdelhamid
A
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
D007328:Insulin; C084797:Leydig insulin-like protein; D011506:Proteins; C472867:RXFP2 protein, human; D043562:Receptors, G-Protein-Coupled; D000242:Cyclic AMP