Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
OBJECTIVE
To identify genetic causes of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.


METHODS
Prospective laboratory study.


METHODS
University hospital.


METHODS
Fifty-six patients with MRKH syndrome.


METHODS
Identification of microdeletions and -duplications in a group of 48 MRKH patients by array-CGH. Results obtained by array-CGH were confirmed by RT-qPCR. Sequential analysis of two candidate genes LHX1 and HNF1B in a group of 56 MRKH patients.


METHODS
Identification of chromosomal regions and genes (recurrent and private) associated with MRKH syndrome.


RESULTS
We could delineate three definitively relevant regions (1q21.1, 17q12, and 22q11.21) and suggest that LHX1 und HNF1B are candidate genes for MRKH syndrome, because we identified recurrent deletions affecting these genes and a possible causative missense mutation in LHX1.


CONCLUSIONS
Our findings suggest that different chromosomal regions are associated with MRKH syndrome.
Ledig
Susanne
S
Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany. sledig@uni-muenster.de
Schippert
Cordula
C
Strick
Reiner
R
Beckmann
Matthias W
MW
Oppelt
Patricia G
PG
Wieacker
Peter
P
D058489:46, XX Disorders of Sex Development / Q000235:genetics; D000015:Abnormalities, Multiple / Q000235:genetics; D016022:Case-Control Studies; D002869:Chromosome Aberrations / Q000706:statistics & numerical data; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D015331:Cohort Studies; D055028:Comparative Genomic Hybridization; D000013:Congenital Abnormalities; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D009095:Mullerian Ducts / Q000002:abnormalities; D019170:Somites / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities