HOXA10 mutations in congenital absence of uterus and vagina.
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.


METHODS
Case-control study.


METHODS
Academic reproductive endocrinology and infertility practice.


METHODS
Blood samples were obtained from 26 patients with CAUV and 30 normal controls.


METHODS
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).


METHODS
To detect DNA sequence differences between patients with CAUV and normal controls.


RESULTS
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.


CONCLUSIONS
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.
Lalwani
Sasmira
S
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Tufts-New England Medical Center, Boston, Massachusetts 02111, USA. slalwani@wihri.org
Wu
Hsin-hung
HH
Reindollar
Richard H
RH
Gray
Mark R
MR
D000015:Abnormalities, Multiple / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D000080905:Homeobox A10 Proteins; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D016366:Open Reading Frames; D017354:Point Mutation; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*
D000080905:Homeobox A10 Proteins; D018398:Homeodomain Proteins; C069634:HOXA10 protein, human