Mutational analysis of HOXA10 gene in Chinese patients with cryptorchidism.
Cryptorchidism is one of the most common congenital anomalies and affects 2-4% of full-term new born boys. Its aetiology is poorly understood at present. HOXA10 plays a pivotal role in regulation of testicular descent. Male mice mutant for Hoxa10 exhibit unilateral or bilateral cryptorchidism as a result of impaired development of the gubernaculums. In this study, we performed mutation analysis of HOXA10 gene in a cohort of 98 cryptorchid patients. And we found a mutation (N27K) in a boy with unilateral cryptorchidism. The mutation was not detected in 106 healthy controls. Both in silico analyses and functional studies showed that the mutation affected the function of HOXA10. The results demonstrated that mutation in HOXA10 gene contributes to the pathogenesis of cryptorchidism, but may not be a common cause.
School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.
Z
Z
Cheng
Department of Obstetrics and Gynecology, Second Affiliated Hospital, Chongqing Medical University, Chongqing, China.
M
M
Wang
Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research and Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, China.
C
C
Xu
School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.
Y
Y
Pei
School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.
J C
JC
Liu
School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.
H
H
Huang
Department of Pediatric Research Institute, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
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D
He
Department of Pediatric Research Institute, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
P
P
Lu
D000293:Adolescent; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China; D003456:Cryptorchidism / Q000235:genetics*; D004252:DNA Mutational Analysis; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D000080905:Homeobox A10 Proteins; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation
D000080905:Homeobox A10 Proteins; D018398:Homeodomain Proteins; C069634:HOXA10 protein, human
HOXA10; cryptorchidism; mutational analysis