Fertility and sterility · 2010
Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Ledig Susanne, Schippert Cordula, Strick Reiner, Beckmann Matthias W, Oppelt Patricia G, Wieacker Peter
Аннотация
OBJECTIVE: To identify genetic causes of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
DESIGN: Prospective laboratory study.
SETTING: University hospital.
PATIENT(S): Fifty-six patients with MRKH syndrome.
INTERVENTION(S): 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.
MAIN OUTCOME MEASURE(S): Identification of chromosomal regions and genes (recurrent and private) associated with MRKH syndrome.
RESULT(S): 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.
CONCLUSION(S): Our findings suggest that different chromosomal regions are associated with MRKH syndrome.
DESIGN: Prospective laboratory study.
SETTING: University hospital.
PATIENT(S): Fifty-six patients with MRKH syndrome.
INTERVENTION(S): 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.
MAIN OUTCOME MEASURE(S): Identification of chromosomal regions and genes (recurrent and private) associated with MRKH syndrome.
RESULT(S): 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.
CONCLUSION(S): Our findings suggest that different chromosomal regions are associated with MRKH syndrome.
Предметные рубрики MeSH
46, XX Disorders of Sex DevelopmentAbnormalities, MultipleCase-Control StudiesChromosome AberrationsChromosomes, Human, Pair 1Chromosomes, Human, Pair 17Chromosomes, Human, Pair 22Cohort StudiesComparative Genomic HybridizationCongenital AbnormalitiesFemaleGene FrequencyGenetic Association StudiesHumansKidneyMullerian DuctsSomitesSpineUterusVagina