Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy.
Pavlina CapkovaAlena SantavaIvana MarkovaAndrea StefekovaJosef SrovnalKaterina StaffovaVeronika DurdováPublished in: Molecular cytogenetics (2017)
An abnormal facial profile detected on prenatal scan can provide a clue to the presence of rare chromosomal abnormalities in the first trimester of pregnancy despite the normal result of the first trimester screening test. The patients should be provided with genetic counselling. Usage of quick and sensitive methods (MLPA, microarray) is preferable for discovering a causal aberration because some of the CNVs cannot be detected with conventional karyotyping in these cases. To the best of our knowledge, this is the earliest detection of this microdeletion (occurred de novo), the first case detected by MLPA and confirmed by microarray. Literature review of the genotype-phenotype correlation in similar reports leads us to the conclusion that dosage imbalance of the chromosomal segment 14q22q23 (especially haploinsuffiency of the genes BMP4 and OTX2) contributes significantly to orofacial abnormalities. Association of the region with the Pierre Robin sequence appears to be plausible.
Keyphrases
- end stage renal disease
- copy number
- mesenchymal stem cells
- genome wide
- ejection fraction
- preterm birth
- newly diagnosed
- healthcare
- computed tomography
- pregnancy outcomes
- pregnant women
- chronic kidney disease
- bioinformatics analysis
- peritoneal dialysis
- prognostic factors
- magnetic resonance imaging
- soft tissue
- gene expression
- dna methylation
- bone regeneration
- patient reported outcomes
- hiv testing
- adverse drug
- smoking cessation
- hiv infected
- genome wide analysis
- men who have sex with men