Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report

Wu, J. B.; Sha, Jie; Zhai, Jingfang; Liu, Y.; Zhang, B.

doi:10.1186/s13039-020-0473-x

Cited by 5 publications

(5 citation statements)

References 32 publications

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“…This might suggest that the dam regulates the length of gestation by the expression of these genes. Similarly, several studies in humans also suggested that there is maternal control over the length of gestation; however, the exact mechanism has not been elucidated (100)(101)(102). In contrast to maternally expressed genes, we predicted that paternally expressed genes extend the length of gestation by delaying progression through the cell cycle and division until damaged DNA is repaired (103,104).…”

Section: Discussionmentioning

confidence: 84%

Parental bias in expression and interaction of genes in the equine placenta

Dini

Kalbfleisch

Uribe-Salazar

et al. 2021

Proc. Natl. Acad. Sci. U.S.A.

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Most autosomal genes in the placenta show a biallelic expression pattern. However, some genes exhibit allele-specific transcription depending on the parental origin of the chromosomes on which the copy of the gene resides. Parentally expressed genes are involved in the reciprocal interaction between maternal and paternal genes, coordinating the allocation of resources between fetus and mother. One of the main challenges of studying parental-specific allelic expression (allele-specific expression [ASE]) in the placenta is the maternal cellular remnant at the fetomaternal interface. Horses (Equus caballus) have an epitheliochorial placenta in which both the endometrial epithelium and the epithelium of the chorionic villi are juxtaposed with minimal extension into the uterine mucosa, yet there is no information available on the allelic gene expression of equine chorioallantois (CA). In the current study, we present a dataset of 1,336 genes showing ASE in the equine CA (https://pouya-dini.github.io/equine-gene-db/) along with a workflow for analyzing ASE genes. We further identified 254 potentially imprinted genes among the parentally expressed genes in the equine CA and evaluated the expression pattern of these genes throughout gestation. Our gene ontology analysis implies that maternally expressed genes tend to decrease the length of gestation, while paternally expressed genes extend the length of gestation. This study provides fundamental information regarding parental gene expression during equine pregnancy, a species with a negligible amount of maternal cellular remnant in its placenta. This information will provide the basis for a better understanding of the role of parental gene expression in the placenta during gestation.

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Section: Discussionmentioning

confidence: 84%

Parental bias in expression and interaction of genes in the equine placenta

Dini

Kalbfleisch

Uribe-Salazar

et al. 2021

Proc. Natl. Acad. Sci. U.S.A.

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“…Along the same line, the observed abnormality in the placental capillaries in the aforementioned studies can be due to the failure of normal placental angiogenesis. Furthermore, the IUGR and hydramnios observed in human pregnancies with abnormal RTL1 expression [41][42][43][44][45] can also be associated with the role of this gene in placental angiogenesis.…”

Section: Discussionmentioning

confidence: 99%

“…In human pregnancy, abnormal expression of RTL1 is associated with IUGR, fetal abnormality and death [38][39][40]. Moreover, the abnormal expression of RTL1 is associated with Temple syndrome and Kagami-Ogata syndrome, which are associated with polyhydramnios, developmental delay, and growth retardation in human fetuses [41][42][43][44][45]. Similarly, abnormal conditions such as hydrops have also been reported in cloned horses and other cloned domestic animals [46].…”

Section: Introductionmentioning

confidence: 99%

Paternally expressed retrotransposon Gag-like 1 gene, RTL1, is one of the crucial elements for placental angiogenesis in horses

Dini

Carossino

Balasuriya

et al. 2021

Biology of Reproduction

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RTL1 (retrotransposon Gag like 1) is an essential gene in the development of the human and murine placenta. Several fetal and placental abnormalities such as intrauterine growth restriction (IUGR) and hydrops conditions have been associated with altered expression of this gene. However, the function of RTL1 has not been identified. RTL1 is located on a highly conserved region in eutherian mammals. Therefore, the genetic and molecular analysis in horses could hold important implications for other species, including humans. Here we demonstrated that RTL1 is paternally expressed and is localized within the endothelial cells of the equine (Equus caballus) chorioallantois. We developed an equine placental microvasculature primary cell culture and demonstrated that RTL1 knock-down leads to loss of the sprouting ability of these endothelial cells. We further demonstrated an association between abnormal expression of RTL1 and development of hydrallantois. Our data suggest that RTL1 may be essential for placental angiogenesis, and its abnormal expression can lead to placental insufficiency. This placental insufficiency could be the reason for IUGR and hydrops conditions reported in other species, including humans.

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“…These findings suggest that partial 9p23p24.3 duplication is related to microcephaly, autism, and other clinical phenotype-related diseases. [ 3 ] On the basis of the observations mentioned above, we consider that 9p24.3 duplication might be associated with mental retardation, autism spectrum disorders, and language disorder. The detected 9p24.3 microduplications in our cases appeared to be benign with an absence of any specific phenotypes.…”

Section: Discussionmentioning

confidence: 99%

“…Most trisomy 9p cases result from parental reciprocal translocation between chromosome 9 and another autosome, and only a limited number of these cases have de novo duplications. [ 2 , 3 ] Patients with 9p duplication usually exhibit a wide spectrum of clinical manifestations, including growth and mental retardation, craniofacial dysmorphisms, limb/skeletal malformations, and kidney disorders. [ 4 , 5 ]…”

Section: Introductionmentioning

confidence: 99%

Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene

Yue

Zhang

et al. 2021

Medicine

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Trisomy 9p is one of the most common chromosomal partial trisomies in newborns. However, reports on prenatal 9p microduplications are rare in the clinic. This study aimed to examine the genotype–phenotype correlation and assess the clinical significance of 9p24.3 microduplication encompassing the DOCK8 gene. Eight pregnant women underwent amniocentesis for cytogenetic and genetic testing for various indications for prenatal diagnosis from January 2019 to January 2020. Chromosomal karyotypic analysis was performed on G-band metaphases that were prepared from cultured amniotic fluid cells. Chromosomal microarray analysis was carried out to detect chromosomal copy number variations. We also performed a literature review on clinical data on similar 9p24.3 microduplications to determine the genotype–phenotype correlation. We detected 123–248-kb microduplications in the region of 9p24.3 (chr9: 208454–469022), involving part of or the entire DOCK8 gene. The indications for prenatal diagnosis mainly focused on the risk of maternal serum screening for trisomy 21/18, advanced maternal age, and increased nuchal translucency. No evident structural abnormalities were observed for all fetuses, except for case 5 who presented with increased nuchal translucency in prenatal ultrasound findings. Follow-up of postnatal health was performed and showed no apparent abnormalities for cases 1 to 6 after birth. The parents of case 7 chose to terminate the pregnancy while the parents of case 8 chose to continue the pregnancy. We propose that 9p24.3 microduplications that encompass part of or the entire DOCK8 gene are variants that might be benign. However, further large-scale studies are necessary to evaluate the clinical pathogenicity. For prenatal cases with 9p24.3 microduplication, postnatal health and growth should be followed up and assessed regularly from childhood to adulthood.

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Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report

Cited by 5 publications

References 32 publications

Parental bias in expression and interaction of genes in the equine placenta

Parental bias in expression and interaction of genes in the equine placenta

Paternally expressed retrotransposon Gag-like 1 gene, RTL1, is one of the crucial elements for placental angiogenesis in horses

Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene

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