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Silver russel syndrome

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https://www.readbyqxmd.com/read/29775803/assisted-reproductive-technologies-and-imprinting-disorders-results-of-a-study-from-a-french-congenital-malformations-registry
#1
Audrey Uk, Sophie Collardeau-Frachon, Quentin Scanvion, Lucas Michon, Emmanuelle Amar
INTRODUCTION: Assisted Reproductive Technologies (ART) is increasingly used to help infertile couples to have children around the world. A number of studies have been published reporting an increased risk of major malformations in children born following ART, especially an increased incidence of epigenetic diseases (ED). This study aimed to assess the incidence of epigenetic diseases with affected imprinting genes in infants or children from pregnancies obtained through IVF/ICSI compared to infants or children from pregnancies obtained spontaneously...
May 15, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29696806/association-of-17q24-2-q24-3-deletions-with-recognizable-phenotype-and-short-telomeres
#2
Miroslava Hancarova, Marcela Malikova, Michaela Kotrova, Jana Drabova, Marie Trkova, Zdenek Sedlacek
Microdeletions of 17q24.2-q24.3 have been described in several patients with developmental and speech delay, growth retardation, and other features. The relatively large size and limited overlap of the deletions complicate the genotype-phenotype correlation. We identified a girl with intellectual disability, growth retardation, dysmorphic features, and a de novo 2.8 Mb long deletion of 17q24.2-q24.3. Her phenotype was strikingly similar to one previously described boy with Dubowitz syndrome (MIM 223370) and a de novo 3...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29696471/comprehensive-meta-analysis-reveals-association-between-multiple-imprinting-disorders-and-conception-by-assisted-reproductive-technology
#3
REVIEW
Victoria K Cortessis, Moosa Azadian, James Buxbaum, Fatimata Sanogo, Ashley Y Song, Intira Sriprasert, Pengxiao C Wei, Jing Yu, Karine Chung, Kimberly D Siegmund
PURPOSE: To determine whether a history of conception by assisted reproductive technology (ART) is associated with occurrence of one or more imprinting disorders of either maternal or paternal origin. METHODS: We implemented a systematic review of scholarly literature followed by comprehensive meta-analysis to quantitatively synthesize data from reports relating to use of ART to occurrence of any imprinting disorder of humans, including Beckwith-Wiedemann (BWS), Angelman (AS), Prader-Willi (PWS), and Silver-Russell (SRS) syndromes, as well as transient neonatal diabetes mellitus (TNDB) and sporadic retinoblasoma (RB)...
April 25, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29659920/chromosome-14q32-2-imprinted-region-disruption-as-an-alternative-molecular-diagnosis-of-silver-russell-syndrome
#4
Sophie Geoffron, Walid Abi Habib, Sandra Chantot-Bastaraud, Béatrice Dubern, Virginie Steunou, Salah Azzi, Alexandra Afenjar, Tiffanny Busa, Ana P Canton, Christel Chalouhi, Marie-Noëlle Dufourg, Blandine Esteva, Mélanie Fradin, David Geneviève, Solveig Heide, Bertrand Isidor, Agnès Linglart, Fanny Morice Picard, Catherine Naud-Saudreau, Isabelle Oliver Petit, Nicole Philip, Catherine Pienkowski, Marlène Rio, Sylvie Rossignol, Maithé Tauber, Julien Thevenon, Thuy-Ai Vu-Hong, Madeleine D Harbison, Jennifer Salem, Frédéric Brioude, Irène Netchine, Eloïse Giabicani
Context: Silver-Russell syndrome (SRS) (mainly secondary to 11p15 molecular disruption) and Temple syndrome (TS) (secondary to 14q32.2 molecular disruption) are imprinting disorders with phenotypic (prenatal and postnatal growth retardation, early feeding difficulties) and molecular overlap. Objective: To describe the clinical overlap between SRS and TS and extensively study the molecular aspects of TS. Patients: We retrospectively collected data on 28 patients with disruption of the 14q32...
April 11, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29655892/a-case-report-and-review-of-the-literature-indicate-that-hmga2-should-be-added-as-a-disease-gene-for-silver-russell-syndrome
#5
Gloria Sarah Leszinski, Katharina Warncke, Julia Hoefele, Matias Wagner
Patients with Silver-Russell syndrome (SRS), a syndromic growth retardation syndrome, usually harbor a maternal uniparental disomy of chromosome 7 or an epimutation at chromosome 11p15. However, to date the genetic cause remains unknown in around 40% of SRS cases, suggesting genetic heterogeneity and involvement of other genes. We present a 4-year-old female patient with the clinical diagnosis of SRS and negative results in common genetic SRS diagnostics. Whole exome sequencing identified a de novo heterozygous 7...
April 12, 2018: Gene
https://www.readbyqxmd.com/read/29546330/clinical-manifestations-and-metabolic-outcomes-of-seven-adults-with-silver-russell-syndrome
#6
Giuseppa Patti, Marta Giaccardi, Valeria Capra, Flavia Napoli, Giuliana Cangemi, Sara Notarnicola, Sara Guzzetti, Silvia Russo, Mohamad Maghnie, Natascia Di Iorgi
Context: There is little information on long-term natural history of Silver-Russell syndrome (SRS). Objective: To describe the phenotypes and the metabolic status in adults with SRS. Design: Clinical and metabolic evaluations in adults with a molecular diagnosis of SRS. Partecipants: 7Caucasian patients (aged 18 to 46 years, mean age 26.9 years) were studied. Two had chromosome 7 maternal uniparental disomy, 3 had 11p15 loss of methylation and 2 had 11p15 duplication...
March 13, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29514882/genomic-imprinting-growth-and-maternal-fetal-interactions
#7
REVIEW
Féaron C Cassidy, Marika Charalambous
In the 1980s, mouse nuclear transplantation experiments revealed that both male and female parental genomes are required for successful development to term ( McGrath and Solter, 1983; Surani and Barton, 1983). This non-equivalence of parental genomes is because imprinted genes are predominantly expressed from only one parental chromosome. Uniparental inheritance of these genomic regions causes paediatric growth disorders such as Beckwith-Wiedemann and Silver-Russell syndromes (reviewed in Peters, 2014). More than 100 imprinted genes have now been discovered and the functions of many of these genes have been assessed in murine models...
March 7, 2018: Journal of Experimental Biology
https://www.readbyqxmd.com/read/29501611/12q14-microdeletion-syndrome-a-family-with-short-stature-and-silver-russell-syndrome-srs-like-phenotype-and-review-of-the-literature
#8
Frederik Heldt, Hannah Wallaschek, Tim Ripperger, Susanne Morlot, Thomas Illig, Thomas Eggermann, Brigitte Schlegelberger, Caroline Scholz, Doris Steinemann
We report here on the first family with short stature and Silver-Russell-like phenotype due to a microdeletion in 12q14.3. The Netchine-Harbison clinical scoring system was used for the clinical diagnosis of Silver-Russell syndrome (SRS). The three affected first-degree relatives (index patient, mother and brother) presented with prenatal and postnatal growth retardation, feeding difficulties, a prominent forehead and a failure to thrive, but did not show relative macrocephaly. In addition, our index patient showed dysmorphic facial features, periodically increased sweating, and scoliosis...
March 1, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29492315/maintenance-of-mest-imprinted-methylation-in-blastocyst-stage-mouse-embryos-is-less-stable-than-other-imprinted-loci-following-superovulation-or-embryo-culture
#9
REVIEW
Brenna A M Velker, Michelle M Denomme, Robert T Krafty, Mellissa R W Mann
Assisted reproductive technologies are fertility treatments used by subfertile couples to conceive their biological child. Although generally considered safe, these pregnancies have been linked to genomic imprinting disorders, including Beckwith-Wiedemann and Silver-Russell Syndromes. Silver-Russell Syndrome is a growth disorder characterized by pre- and post-natal growth retardation. The Mest imprinted domain is one candidate region on chromosome 7 implicated in Silver-Russell Syndrome. We have previously shown that maintenance of imprinted methylation was disrupted by superovulation or embryo culture during pre-implantation mouse development...
July 2017: Environmental Epigenetics
https://www.readbyqxmd.com/read/29484033/is-zfp57-binding-to-h19-igf2-ig-dmr-affected-in-silver-russell-syndrome
#10
Angela Sparago, Flavia Cerrato, Andrea Riccio
Background: Loss of paternal methylation (LOM) of the H19/IGF2 intergenic differentially methylated region ( H19/IGF2 :IG-DMR) causes alteration of H19/IGF2 imprinting and Silver-Russell syndrome (SRS). Recently, internal deletions of the H19/IGF2 :IG-DMR have been associated with LOM and SRS when present on the paternal chromosome. In contrast, previously described deletions, most of which cause gain of methylation (GOM) and Beckwith-Wiedemann syndrome (BWS) on maternal transmission, were consistently associated with normal methylation and phenotype if paternally inherited...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29298282/the-effects-of-growth-hormone-therapy-on-the-somatic-development-of-a-group-of-polish-children-with-silver-russell-syndrome
#11
Magdalena Sienko, Elżbieta Petriczko, Stanislaw Zajaczek, Agata Zygmunt-Gorska, Jerzy Starzyk, Alicja Korpysz, Jan Petriczko, Alicja Walczak, Mieczysław Walczak
OBJECTIVE: Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a triangular shaped face with a small mandible, a prominent frontal eminence, a thin vermilion border with downward-pointing lip corners, clino- and brachydactyly of the 5th fingers as well as body asymmetry. The most well-known genetic mutations in this syndrome are: the 11p15 epimutation (20-60% patients) and the maternal uniparental chromosome 7 disomy present in 7% to 15% of patients...
December 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29250858/structural-and-sequence-variants-in-patients-with-silver-russell-syndrome-or-similar-features-curation-of-a-disease-database
#12
Zeynep Tümer, Julia Angélica López-Hernández, Irène Netchine, Miriam Elbracht, Karen Grønskov, Lene Bjerring Gede, Jana Sachwitz, Johan T den Dunnen, Thomas Eggermann
Silver-Russell syndrome (SRS) is a clinically and molecularly heterogeneous disorder involving prenatal and postnatal growth retardation, and the term SRS-like is broadly used to describe individuals with clinical features resembling SRS. The main molecular subgroups are loss of methylation of the distal imprinting control region (H19/IGF2:IG-DMR) on 11p15.5 (50%) and maternal uniparental disomy of chromosome 7 (5%-10%). Through a comprehensive literature search, we identified 91 patients/families with various structural and small sequence variants, which were suggested as additional molecular defects leading to SRS/SRS-like phenotypes...
March 2018: Human Mutation
https://www.readbyqxmd.com/read/29223973/chromosomal-rearrangements-in-the-11p15-imprinted-region-17-new-11p15-5-duplications-with-associated-phenotypes-and-putative-functional-consequences
#13
Solveig Heide, Sandra Chantot-Bastaraud, Boris Keren, Madeleine D Harbison, Salah Azzi, Sylvie Rossignol, Caroline Michot, Marilyn Lackmy-Port Lys, Bénédicte Demeer, Claudine Heinrichs, Ron S Newfield, Pierre Sarda, Lionel Van Maldergem, Véronique Trifard, Eloise Giabicani, Jean-Pierre Siffroi, Yves Le Bouc, Irène Netchine, Frédéric Brioude
BACKGROUND: The 11p15 region contains two clusters of imprinted genes. Opposite genetic and epigenetic anomalies of this region result in two distinct growth disturbance syndromes: Beckwith-Wiedemann (BWS) and Silver-Russell syndromes (SRS). Cytogenetic rearrangements within this region represent less than 3% of SRS and BWS cases. Among these, 11p15 duplications were infrequently reported and interpretation of their pathogenic effects is complex. OBJECTIVES: To report cytogenetic and methylation analyses in a cohort of patients with SRS/BWS carrying 11p15 duplications and establish genotype/phenotype correlations...
March 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29146936/hypomethylation-of-hoxa4-promoter-is-common-in-silver-russell-syndrome-and-growth-restriction-and-associates-with-stature-in-healthy-children
#14
Mari Muurinen, Katariina Hannula-Jouppi, Lovisa E Reinius, Cilla Söderhäll, Simon Kebede Merid, Anna Bergström, Erik Melén, Göran Pershagen, Marita Lipsanen-Nyman, Dario Greco, Juha Kere
Silver-Russell syndrome (SRS) is a growth retardation syndrome in which loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 [UPD(7)mat] explain 20-60% and 10% of the syndrome, respectively. To search for a molecular cause for the remaining SRS cases, and to find a possible common epigenetic change, we studied DNA methylation pattern of more than 450 000 CpG sites in 44 SRS patients. Common to all three SRS subgroups, we found a hypomethylated region at the promoter region of HOXA4 in 55% of the patients...
November 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29075327/mosaic-upd-7q-mat-in-a-patient-with-silver-russell-syndrome
#15
Jiasun Su, Jin Wang, Xin Fan, Chunyun Fu, ShuJie Zhang, Yue Zhang, Zailong Qin, Hongdou Li, Jingsi Luo, Chuan Li, Tingting Jiang, Yiping Shen
BACKGROUND: Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ~ 10% of SRS cases are known to be associated with maternal uniparental disomy of chromosome 7 (UPD(7)mat). Mosaic maternal segmental UPD of 7q (UPD(7q)mat) is very rare, had only been described in one case before. CASE PRESENTATION: We reported a second case of mosaic segmental UPD involving 7q...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29026575/cystic-fibrosis-and-silver-russell-syndrome-due-to-a-partial-maternal-isodisomy-of-chromosome-7
#16
Lonneke C Gerbrands, Eric G Haarman, Margot A Hankel, Martijn J J Finken
If an infant with cystic fibrosis exhibits failure to thrive, despite adequate disease management, Silver-Russell syndrome should be considered, given the locations of these conditions in the genome. However, an earlier clue to the diagnosis is small-for-gestational-age birth.
October 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28945864/adrenarche-in-silver-russell-syndrome-timing-and-consequences
#17
Gerhard Binder, Roland Schweizer, Gunnar Blumenstock, Nawfel Ferrand
Objectives: Premature adrenarche has been reported to be frequent in Silver-Russell syndrome (SRS), but systematic studies are lacking. Here, we studied the prevalence of early adrenarche in SRS, potential predictors, and consequences based on cases with long-term follow-up. Design and Setting: This retrospective longitudinal single-center study included 62 patients with SRS (34 boys) with documented age at adrenarche and positive Netchine-Harbison clinical score who were seen during the past 20 years with a median follow-up of 12...
November 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28936199/bone-status-in-a-patient-with-insulin-like-growth-factor-1-receptor-deletion-syndrome-bone-quality-and-structure-evaluation-using-dual-energy-x-ray-absorptiometry-peripheral-quantitative-computed-tomography-and-quantitative-ultrasonography
#18
Paola Pelosi, Elisabetta Lapi, Loredana Cavalli, Alberto Verrotti, Marilena Pantaleo, Maurizio de Martino, Stefano Stagi
Haploinsufficiency of the insulin-like growth factor (IGF)-1 receptor (IGF1R) gene is a rare, probably under-diagnosed, cause of short stature. However, the effects of IGF1R haploinsufficiency on glucose metabolism, bone status, and metabolism have rarely been investigated. We report the case of a patient referred to our center at the age of 18 months for short stature, failure to thrive, and Silver-Russell-like phenotype. Genetic analysis did not show hypomethylation of the 11p15.5 region or uniparental disomy of chromosome 7...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28930539/transcriptional-regulation-of-p57-kip2-expression-during-development-differentiation-and-disease
#19
Marianna N Rossi, Oriella Andresini, Francesca Matteini, Rossella Maione
p57(kip2) is the most complex member of the CIP/KIP family of cyclin-dependent kinase inhibitors and plays a fundamental role in regulating cell cycle and differentiation during mammalian development. Consistently with a key role for p57(kip2) in the spatial and temporal control of cell proliferation, its expression is fine-tuned by multiple regulatory mechanisms, resulting in a tissue-, developmental phase- and cell type-specific pattern. Moreover, p57(kip2) is an imprinted gene, further supporting the importance of its proper expression dosage...
January 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28882028/cochlear-malformation-and-sensorineural-hearing-loss-in-the-silver-russell-syndrome
#20
Stefania Bigoni, Mauro Antonio, Alessandra Ferlini, Virginia Corazzi, Andrea Ciorba, Claudia Aimoni
No abstract text is available yet for this article.
September 7, 2017: Minerva Pediatrica
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