HOXA10 mutations in congenital absence of uterus and vagina

Document Type

Journal Article

Publication Date



Fertility and Sterility








Congenital absence of the uterus and vagina; HOXA10 gene; Mayer-Rokitansky-Küster-Hauser syndrome; Mullerian aplasia


Objective: To analyze the HOXA10 genes in CAUV patients for mutations. Congenital absence of the uterus and vagina (CAUV) is the most extreme female reproductive tract developmental defect known. The HOXA10 gene is expressed in the developing and adult uterus. Female mice with loss-of-function Hoxa10 gene mutations have anteriorly directed homeotic transformations of the uterus. Because the HOXA10 gene is expressed in the embryonic paramesonephric (Müllerian) ducts, abnormally low expression by mutant HOXA10 genes might cause CAUV. This hypothesis was tested by analyzing the HOXA10 genes in CAUV patients for mutations. Design: Case-control study. Setting: Academic reproductive endocrinology and infertility practice. Patient(s): Blood samples were obtained from 26 patients with CAUV and 30 normal controls. Intervention(s): DNA samples prepared from blood leukocytes were used as templates for polymerase chain reaction (PCR) amplification of DNA fragments from the HOXA10 gene. The gene fragments were tested for DNA sequence differences using denaturing gradient gel electrophoresis (DGGE). Main Outcome Measure(s): To detect DNA sequence differences between patients with CAUV and normal controls. Result(s): No DNA sequence differences were found in either patients with CAUV or normal controls in either of the two protein-coding exons of the HOXA10 gene. Conclusion(s): Because no HOXA10 gene mutations were found in 26 patients from 25 unrelated families, germ- line mutations in the HOXA10 gene are not a common cause of CAUV. © 2008 American Society for Reproductive Medicine.