• Je něco špatně v tomto záznamu ?

Haploinsufficiency ofBMP4andOTX2in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy

P. Capkova, A. Santava, I. Markova, A. Stefekova, J. Srovnal, K. Staffova, V. Durdová,

. 2017 ; 10 (-) : 47. [pub] 20171228

Jazyk angličtina Země Velká Británie

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc18010109

Background: Interstitial microdeletion 14q22q23 is a rare chromosomal syndrome associated with variable defects: microphthalmia/anophthalmia, pituitary anomalies, polydactyly/syndactyly of hands and feet, micrognathia/retrognathia. The reports of the microdeletion 14q22q23 detected in the prenatal stages are limited and the range of clinical features reveals a quite high variability. Case presentation: We report a detection of the microdeletion 14q22.1q23.1 spanning 7,7 Mb and involving the genesBMP4andOTX2in the foetus by multiplex ligation-dependent probe amplification (MLPA) and verified by microarray subsequently. The pregnancy was referred to the genetic counselling for abnormal facial profile observed in the first trimester ultrasound scan and micrognathia (suspicion of Pierre Robin sequence), hypoplasia nasal bone and polydactyly in the second trimester ultrasound scan. The pregnancy was terminated on request of the parents. Conclusion: 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 genesBMP4andOTX2) contributes significantly to orofacial abnormalities. Association of the region with the Pierre Robin sequence appears to be plausible.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc18010109
003      
CZ-PrNML
005      
20230629091825.0
007      
ta
008      
180404s2017 xxk f 000 0|eng||
009      
AR
024    7_
$a 10.1186/s13039-017-0351-3 $2 doi
035    __
$a (PubMed)29299063
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxk
100    1_
$a Capkova, Pavlina $u Department of Medical Genetics, University Hospital Olomouc, I.P.Pavlova 6, Olomouc, Czech Republic.
245    10
$a Haploinsufficiency ofBMP4andOTX2in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy / $c P. Capkova, A. Santava, I. Markova, A. Stefekova, J. Srovnal, K. Staffova, V. Durdová,
520    9_
$a Background: Interstitial microdeletion 14q22q23 is a rare chromosomal syndrome associated with variable defects: microphthalmia/anophthalmia, pituitary anomalies, polydactyly/syndactyly of hands and feet, micrognathia/retrognathia. The reports of the microdeletion 14q22q23 detected in the prenatal stages are limited and the range of clinical features reveals a quite high variability. Case presentation: We report a detection of the microdeletion 14q22.1q23.1 spanning 7,7 Mb and involving the genesBMP4andOTX2in the foetus by multiplex ligation-dependent probe amplification (MLPA) and verified by microarray subsequently. The pregnancy was referred to the genetic counselling for abnormal facial profile observed in the first trimester ultrasound scan and micrognathia (suspicion of Pierre Robin sequence), hypoplasia nasal bone and polydactyly in the second trimester ultrasound scan. The pregnancy was terminated on request of the parents. Conclusion: 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 genesBMP4andOTX2) contributes significantly to orofacial abnormalities. Association of the region with the Pierre Robin sequence appears to be plausible.
655    _2
$a časopisecké články $7 D016428
700    1_
$a Santava, Alena $u Department of Medical Genetics, University Hospital Olomouc, I.P.Pavlova 6, Olomouc, Czech Republic.
700    1_
$a Markova, Ivana $u Department of Obstetrics and Gynaecology, University Hospital Olomouc, Olomouc, Czech Republic.
700    1_
$a Štefeková, Andrea $u Department of Medical Genetics, University Hospital Olomouc, I.P.Pavlova 6, Olomouc, Czech Republic. $7 xx0303361
700    1_
$a Srovnal, Josef $u Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacky University Olomouc, Olomouc, Czech Republic.
700    1_
$a Staffova, Katerina $u Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacky University Olomouc, Olomouc, Czech Republic.
700    1_
$a Durdová, Veronika $u Department of Obstetrics and Gynaecology, University Hospital Olomouc, Olomouc, Czech Republic.
773    0_
$w MED00184062 $t Molecular cytogenetics $x 1755-8166 $g Roč. 10, č. - (2017), s. 47
856    41
$u https://pubmed.ncbi.nlm.nih.gov/29299063 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20180404 $b ABA008
991    __
$a 20230629091820 $b ABA008
999    __
$a ind $b bmc $g 1287594 $s 1006921
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2017 $b 10 $c - $d 47 $e 20171228 $i 1755-8166 $m Molecular cytogenetics $n Mol Cytogenet $x MED00184062
LZP    __
$a Pubmed-20180404

Najít záznam

Citační ukazatele

Možnosti archivace