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Silver russel syndrome

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/28872989/orthodontic-treatment-in-conjunction-with-twin-bock-treatment-and-growth-hormone-therapy-in-silver-russell-syndrome
#8
Su-Jin Ko, Ji Young Seo, Yong-Dae Kwon, Kyounga Cheon, Jae Hyun Park
Silver-Russell syndrome (SRS) is a very rare genetic disorder characterized by intrauterine growth retardation, short stature, and typical craniofacial abnormalities including micrognathia. While growth hormone (GH) therapy in children with SRS significantly improves somatic growth, functional orthopedic treatment can also be effective in adolescents with mandibular deficiency. We report the effects of Phase 1 functional orthopedic treatment of a twin-block appliance in conjunction with GH administration in a 9-year-old boy with GH deficiency and SRS, and the result of the subsequent Phase 2 orthodontic treatment...
2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28870985/whole-exome-sequencing-gives-additional-benefits-compared-to-candidate-gene-sequencing-in-the-molecular-diagnosis-of-children-with-growth-hormone-or-igf-1-insensitivity
#9
Lucy Shapiro, Sumana Chatterjee, Dina G Ramadan, Kate M Davies, Martin O Savage, Louise A Metherell, Helen L Storr
BACKGROUND: GH insensitivity (GHI) is characterised by short stature, IGF-1 deficiency and normal/elevated serum GH. IGF-1 insensitivity results in pre- and post-natal growth failure with normal/high IGF-1 levels. The prevalence of genetic defects is unknown. OBJECTIVE: To identify the underlying genetic diagnoses in a paediatric cohort with GH or IGF-1 insensitivity using candidate gene (CGS) and whole-exome sequencing (WES) and assess factors associated with the discovery of a genetic defect...
December 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28815877/new-intragenic-rearrangements-in-non-finnish-mulibrey-nanism
#10
Florence Jobic, Gilles Morin, Catherine Vincent-Delorme, Estelle Cadet, Rosalie Cabry, Michèle Mathieu-Dramard, Henri Copin, Jacques Rochette, Guillaume Jedraszak
Prenatal growth is a complex dynamic process controlled by various genetic and environmental factors. Among genetic syndromes characterized by growth restriction, MULIBREY nanism represents a rare autosomal recessive condition presenting with severe pre- and post-natal growth failure, characteristic dysmorphic features but normal neurological development. The phenotype of MULIBREY nanism is variable and overlaps with others such as the Silver-Russell syndrome. We report here three patients in two distinct non-Finnish families from North France who were first suspected to have Silver-Russell syndrome which failed to be confirmed on molecular analyses...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28807811/clinical-validation-of-a-genome-wide-dna-methylation-assay-for-molecular-diagnosis-of-imprinting-disorders
#11
Erfan Aref-Eshghi, Laila C Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Victoria Siu, David Rodenhiser, Charles Schwartz, Bekim Sadikovic
Genomic imprinting involves a DNA methylation-dependent and parent-of-origin-specific regulation of gene expression. Clinical assays for imprinting disorders are genomic locus, disorder, and molecular defect specific. We aimed to clinically validate a genome-wide approach for simultaneous testing of common imprinting disorders in a single assay. Using genome-wide DNA methylation arrays, epigenetic profiles from peripheral blood of patients with Angelman, Prader-Willi, Beckwith-Wiedemann, or Silver-Russell syndromes were compared to a reference cohort of 361 unaffected individuals...
August 12, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28806298/effect-of-cyproheptadine-on-weight-and-growth-velocity-in-children-with-silver-russell-syndrome
#12
Anaïs Lemoine, Madeleine D Harbison, Jennifer Salem, Patrick Tounian, Irène Netchine, Béatrice Dubern
OBJECTIVES: Nutritional management of children with Silver-Russell syndrome (SRS) is crucial, especially before initiating growth hormone therapy (GHT). Since cyproheptadine (CYP) has been reported to be orexigenic, we retrospectively investigated the effects of CYP on changes in weight and height in SRS patients. METHODS: Anthropometric parameters (weight [W], length or height [H], relative body weight for height [W/H] and body mass index [BMI]) were recorded for 34 children with SRS receiving CYP...
August 11, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28796236/genetic-disruption-of-the-oncogenic-hmga2-plag1-igf2-pathway-causes-fetal-growth-restriction
#13
Walid Abi Habib, Frédéric Brioude, Thomas Edouard, James T Bennett, Anne Lienhardt-Roussie, Frédérique Tixier, Jennifer Salem, Tony Yuen, Salah Azzi, Yves Le Bouc, Madeleine D Harbison, Irène Netchine
PurposeFetal growth is a complex process involving maternal, placental and fetal factors. The etiology of fetal growth retardation remains unknown in many cases. The aim of this study is to identify novel human mutations and genes related to Silver-Russell syndrome (SRS), a syndromic form of fetal growth retardation, usually caused by epigenetic downregulation of the potent fetal growth factor IGF2.MethodsWhole-exome sequencing was carried out on members of an SRS familial case. The candidate gene from the familial case and two other genes were screened by targeted high-throughput sequencing in a large cohort of suspected SRS patients...
August 10, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28770003/formation-of-upd-7-mat-by-trisomic-rescue-snp-array-typing-provides-new-insights-in-chromosomal-nondisjunction
#14
Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, Matthias Begemann, Miriam Elbracht, Luitgard Graul-Neumann, Madeleine Harbison, Irène Netchine, Thomas Eggermann
BACKGROUND: Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and trisomy 7, a significant number of mechanisms have been proposed to explain the postzygotic formation of these chromosomal compositions, but all have been based on as small number of cases. To obtain the ratio of isodisomy and heterodisomy in UPDs (hUPD, iUPD) and to determine the underlying formation mechanisms, we analysed a large cohort of upd(7)mat patients (n = 73) by SNP array typing...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28764823/silver-russell-syndrome-a-review
#15
Bernice Sophie Spiteri, Yanika Stafrace
Silver-Russell syndrome (SRS) is a rare congenital imprinting disorder. The genetic findings in SRS patients are heterogeneous and often sporadic. However, chromosomes 7, 11, and 17 are consistently involved in all individuals who meet the strict diagnostic criteria of SRS. There are many clinical features characteristic of SRS; the most common are low birth weight, short stature, triangular face, clinodactyly, relative macrocephaly, ear anomalies, and skeletal asymmetry.
July 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/28750761/the-next-generation-of-silver-russell-syndrome
#16
Thomas R Welch
No abstract text is available yet for this article.
August 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28675902/the-diagnostic-value-of-igf-2-and-the-igf-igfbp-3-system-in-silver-russell-syndrome
#17
Gerhard Binder, Thomas Eggermann, Karin Weber, Nawfel Ferrand, Roland Schweizer
BACKGROUND/AIMS: Recently, we have described a family of 4 members presenting with intrauterine and postnatal growth failure, low IGF-2 levels, and signs of Silver-Russell syndrome (SRS) who carried a genomic IGF2 mutation. Here, we assess the value of IGF-2 in relation to SRS. METHODS: We collected data from 48 SRS children and 48 short children born small for gestational age (SGA) seen at our center. The SRS children were 4.6 ± 2.0 years of age, and the SGA children were 4...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28640239/temple-syndrome-comprehensive-molecular-and-clinical-findings-in-32-japanese-patients
#18
Masayo Kagami, Keisuke Nagasaki, Rika Kosaki, Reiko Horikawa, Yasuhiro Naiki, Shinji Saitoh, Toshihiro Tajima, Tohru Yorifuji, Chikahiko Numakura, Seiji Mizuno, Akie Nakamura, Keiko Matsubara, Maki Fukami, Tsutomu Ogata
PurposeTemple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the 14q32.2 imprinted region. Here, we report comprehensive molecular and clinical findings in 32 Japanese patients with TS14.MethodsWe performed molecular studies for TS14 in 356 patients with variable phenotypes, and clinical studies in all TS14 patients, including 13 previously reported.ResultsWe identified 19 new patients with TS14, and the total of 32 patients was made up of 23 patients with maternal uniparental disomy (UPD(14)mat), six patients with epimutations, and three patients with microdeletions...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28624953/genome-wide-analysis-of-differential-dna-methylation-in-silver-russell-syndrome
#19
Di Wu, Chunxiu Gong, Chang Su
Silver-Russell Syndrome (SRS) is clinically heterogeneous disorder characterized by low birth weight, postnatal growth restriction, and variable dysmorphic features. Current evidence strongly implicates imprinted genes as an important etiology of SRS. Although almost half of the patients showed DNA hypomethylation at the H19/IGF2 imprinted domain, and approximately 7%-10% of SRS patients have maternal uniparental disomy of chromosome 7 (UPD (7) mat); the rest of the SRS patients shows unknown etiology. In this study, we investigate whether there are further DNA methylation defects in SRS patients...
July 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28592837/maternally-derived-15q11-2-q13-1-duplication-and-h19-dmr-hypomethylation-in-a-patient-with-silver-russell-syndrome
#20
Sumito Dateki, Masayo Kagami, Keiko Matsubara, Kei Izumi, Satoshi Watanabe, Akiko Nakatomi, Tatsuro Kondoh, Maki Fukami, Hiroyuki Moriuchi
Silver-Russell syndrome (SRS) is a congenital developmental disorder characterized by intrauterine and postnatal growth failure, craniofacial features (including a triangular shaped face and broad forehead), relative macrocephaly, protruding forehead, body asymmetry and feeding difficulties. Hypomethylation of the H19 differentially methylated region (DMR) on chromosome 11p15.5 is the most common cause of the SRS phenotype. We report the first SRS patient with hypomethylation of the H19-DMR and maternally derived 15q11...
October 2017: Journal of Human Genetics
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