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Genetics
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Jane A. Hurst, Richard H. Scott
Disruption of the imprinted domain at 11p15 result in increased expression of growth promoting genes such as IGF2 and/or decreased expression of growth suppressing genes such as CDKN1C. Abnormalities at 11p15 are identifiable in approximately 80% of cases and include loss of methylation at KvDMR1 (approximately 50% of cases), paternal UPD 11p15 (20%), hyperrmethylation at H19 DMR (5%), maternally inherited mutations in CDKN1C (<5%) and duplications of the paternal 11p15 allele, including those occurring as part of unbalanced translocations (<1%). These abnormalities are reciprocal to those seen in Silver–Russell syndrome.
Epigenetic and Assisted Reproduction Epidemiological Studies
Published in Cristina Camprubí, Joan Blanco, Epigenetics and Assisted Reproduction, 2018
The first identified ImpDis (i.e., Prader-Willi syndrome [PWS]; Angelman syndrome [AS], Beckwith-Wiedemann syndrome [BWS]) have been associated with distinct phenotypes, but in the last years it became obvious that the spectrum of clinical features can be very broad and range from very mild phenotypes to patients with the full clinical picture. Furthermore, the recently identified IDs do not show this distinct separation but clinically overlap with other ImpDis. An example is Temple syndrome (TS14), which has to be considered as a differential diagnosis for Silver-Russell syndrome (SRS) in early childhood and for PWS in late infancy. As a result the distinction between the different ImpDis can be difficult in some situations due to common phenotypic signs and overlapping molecular alterations, and thereby cause problems for accurate diagnosis and targeted treatment. To circumvent this problem clinical scoring systems have been developed for some ImpDis (3), but they fail to detect those patients with only minor or atypical clinical signs, or might indicate another ImpDis than the one which is finally molecularly diagnosed. On molecular level, the clinical heterogeneity can be explained by the mosaic distribution of some (epi)mutations with different ratios of aberrant cells in different tissues (4). Another reason for the clinical overlap between ImpDis is the occurrence of MLID, that is, the altered methylation at different imprinted loci in the same individual (5).
Management of feeding problems in children with a chronic illness
Published in Southall Angela, Feeding Problems in Children, 2017
Anthony. Schwartz, Zuzana. Rothlingova
Since parental emotional welfare is implicated in children's feeding, clinicians need to consider parents' emotional adjustment. Additionally, studies have made a link between parental anxiety about their child's health and eating problems (Chase et al, 1979; Crist et al, 1994; Lindberg et al, 1991; Melvin et al, 1997; Singer et al, 1991). A single-case study by Blissett and Harris (2002) illustrates the process of a behavioural intervention in a child with Silver Russell Syndrome, a growth disorder, and emphasises treatment focusing on reducing parental anxiety, returning a sense of control to the child and the implementation of a feeding programme focusing on positive reinforcement for feeding behaviour.
A spontaneous pregnancy and successful delivery in a Chinese female with Silver-Russell syndrome accompanied by gestational diabetes mellitus
Published in Gynecological Endocrinology, 2019
Mengte Shi, Luya Ruan, Xiaomin Shi, Yaoxin Zhu, Yanying Qian, Zhijuan Dai, Chaoming Wu
The Silver-Russell syndrome (SRS) is a genetic condition characterized by growth restriction, relative macrocephaly, body asymmetry, and characteristic facial features, which was first reported by Silver et al. in 1953 and Russell in 1954 [1]. To date, more than 400 cases have been reported worldwide [2]. This disease has been attributed to the role of epigenetics: mainly maternal uniparental disomy of chromosome 7 (mUPD7) or loss of methylation on chromosome 11p15 (11p15 LOM) imprinting center region 1 (ICR1) regulating the insulin-like growth factor-2 (IGF2)/H19 locus. Since molecular testing can only diagnose 60% of patients [3], SRS is currently a clinical diagnosis based on clinical scoring systems. To date, Netchine–Harbison clinical scoring system is proposed as the only scoring system for the diagnosis of SRS, including six clinical criteria [4]. There are few reports of patient with SRS concomitant diabetes [5,6]; herein, we report a unique case of a 31-year-old Chinese woman with SRS and concomitant GDM.
Alteration in methylation level at differential methylated regions of MEST and DLK1 in fetus of preeclampsia
Published in Hypertension in Pregnancy, 2018
Xiaoqing Wang, Liuxia Wan, Xiaoling Weng, Jiamin Xie, Aiping Zhang, Yun Liu, Minyue Dong
Human maternal uniparental disomy (UPD) of the whole chromosome seven has been reported in eight patients with intrauterine and postnatal growth retardation with slight morphological abnormalities. It is a candidate gene responsible for primordial growth retardation including Silver-Russell syndrome (SRS) (34). SRS is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction. It is one of the imprinting disorders, which results as a consequence of aberrant imprinted gene expressions (46). Human MEST is highly expressed in human placental tissues and plays a role in placental and decidual angiogenesis (47). However, shadow invasion of trophoblast cells into the spiral arteries of the placenta and inadequate placental perfusion are pathological character of preeclampsia. Whether there is a relationship between them needs further research. Human MEST is highly homologous to mouse Mest. Whereas genetic experiments have shown that the mouse Mest controls prenatal growth, with growth retardation of the fetus when the placenta in Mest-deficient conceptuses (48). Hajj et al. (39) found that maternal gestational diabetes mellitus (GDM) decreased cord blood methylation level of MEST by 4–7%, on the other hand, authors also observed decreased blood MEST methylation (3%) in obese subjects compared with normal weight control. These findings indicate intrauterine milieu has long-lasting effects on offspring epigenetics and changed methylation of MEST may contribute to obesity throughout life. MEST has been found to regulate adipocyte differentiation and may be a marker of adipocyte size although there is some discrepancy in human and murine observations (49,50).
Cannabis alters DNA methylation at maternally imprinted and autism candidate genes in spermatogenic cells
Published in Systems Biology in Reproductive Medicine, 2022
Rose Schrott, Katherine W. Greeson, Dillon King, Krista M. Symosko Crow, Charles A. Easley, Susan K. Murphy
In CE-exposed haploid spermatid-like cells, we observed significant effects of exposure at maternally methylated PEG3 and GRB10 DMRs. PEG3 was hypermethylated at every CpG site analyzed in the CE-exposed cells relative to the controls. Importantly, PEG3 is involved in controlling the rate of fetal growth and regulating maternal nurturing behaviors (Huang and Kim 2009; Kim et al. 2013). Mouse models of mutated Peg3 have demonstrated that Peg3 is involved in regulating transcription of placental genes, and epigenetic abnormalities with PEG3 have been associated with multiple forms of cancer and with hydatidiform mole – a pregnancy complication associated with abnormal growth of the trophoblast cells that form the placenta (El-Maarri et al. 2003; Huang and Kim 2009; Kim et al. 2013). The GRB10 DMR was similarly hypermethylated at each CpG site in the cells exposed to CE relative to those exposed to vehicle control. GRB10’s functions and tissue-specific expression patterns are complex, but it is known to be paternally expressed in sperm and neurons (Hikichi et al. 2003; Plasschaert and Bartolomei 2015). GRB10 has important roles in the regulation of cellular growth and embryonic development (Charalambous et al. 2003; Smith et al. 2007). Knockout of the paternal allele of Grb10 in mice resulted in increased social dominance behaviors, as well as increased anxiety behaviors and general aggression (Garfield et al. 2011; Plasschaert and Bartolomei 2015). Additionally, aberrant imprinting at GRB10 has been associated with the growth retardation phenotypes observed in Silver-Russell Syndrome (Charalambous et al. 2003). While the effect of CE exposure was not significant for these genes in SSCs, it did approach significance. It is, therefore, possible that a small subset of SSCs was affected by CE exposure, and it was from those SSCs that the affected haploid spermatids were derived, as the direction of methylation change was the same. Lineage tracing studies would be necessary to test this hypothesis, following cells as they differentiate to determine from which progenitor cell they arose.