BACKGROUND: In male mice, targeted disruption of the homeobox gene hoxa10 causes cryptorchidism and infertility. Genetic alterations in exon 1 of HOXA10 have been found in a high number of boys with cryptorchidism. AIM: To evaluate whether mutations of HOXA10 can be a common cause of cryptorchidism. PATIENTS AND METHODS: Genomic DNA was extracted from 18 patients with cryptorchidism (age 7-44 years; unilateral n = 13; no familial cases) and 28 healthy controls (age 9-39 years). HOXA10 was amplified by PCR and all coding sequences of exon 1 and 2 were sequenced. The PCR products were digested by ScrFI restriction enzyme and the restriction fragments obtained were analyzed on 2% agarose gel. RESULTS: One silent polymorphism, G-->A substitution at position 1203, was detected in 2/18 patients (11.1%). The same polymorphism was detected in 3/28 controls (10.7%). CONCLUSIONS: These data on HOXA10 analysis indicate that alterations of this gene may be more rare in males with cryptorchidism than previously suggested. This finding agrees with the rare occurrence of INSL3 gene mutations in human cryptorchidism, but needs to be confirmed in a larger series of selected patients.
BACKGROUND: In male mice, targeted disruption of the homeobox gene hoxa10 causes cryptorchidism and infertility. Genetic alterations in exon 1 of HOXA10 have been found in a high number of boys with cryptorchidism. AIM: To evaluate whether mutations of HOXA10 can be a common cause of cryptorchidism. PATIENTS AND METHODS: Genomic DNA was extracted from 18 patients with cryptorchidism (age 7-44 years; unilateral n = 13; no familial cases) and 28 healthy controls (age 9-39 years). HOXA10 was amplified by PCR and all coding sequences of exon 1 and 2 were sequenced. The PCR products were digested by ScrFI restriction enzyme and the restriction fragments obtained were analyzed on 2% agarose gel. RESULTS: One silent polymorphism, G-->A substitution at position 1203, was detected in 2/18 patients (11.1%). The same polymorphism was detected in 3/28 controls (10.7%). CONCLUSIONS: These data on HOXA10 analysis indicate that alterations of this gene may be more rare in males with cryptorchidism than previously suggested. This finding agrees with the rare occurrence of INSL3 gene mutations in human cryptorchidism, but needs to be confirmed in a larger series of selected patients.
Authors: Julia Spencer Barthold; Yanping Wang; Thomas F Kolon; Claude Kollin; Agneta Nordenskjöld; Alicia Olivant Fisher; T Ernesto Figueroa; Ahmad H BaniHani; Jennifer A Hagerty; Ricardo Gonzaléz; Paul H Noh; Rosetta M Chiavacci; Kisha R Harden; Debra J Abrams; Cecilia E Kim; Jin Li; Hakon Hakonarson; Marcella Devoto Journal: Hum Reprod Date: 2015-07-24 Impact factor: 6.918
Authors: Yanping Wang; Jin Li; Thomas F Kolon; Alicia Olivant Fisher; T Ernesto Figueroa; Ahmad H BaniHani; Jennifer A Hagerty; Ricardo Gonzalez; Paul H Noh; Rosetta M Chiavacci; Kisha R Harden; Debra J Abrams; Deborah Stabley; Cecilia E Kim; Katia Sol-Church; Hakon Hakonarson; Marcella Devoto; Julia Spencer Barthold Journal: BMC Urol Date: 2016-10-21 Impact factor: 2.264