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Silver russel syndrome

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https://www.readbyqxmd.com/read/28314972/-rare-diseases-with-clinical-relevance-the-silver-russell-syndrome
#1
C Neissner, C Schepp, W H Rösch
The Silver-Russell syndrome (SRS) is a rare imprinting disease associated with pre- and postnatal growth retardation, craniofacial features, and asymmetry. Genitourinary abnormalities are seen in up to 20% of affected individuals. Apart from structural renal anomalies, cryptorchidism and hypospadias occur frequently in boys, while girls often have anomalies similar to those in Mayer-Rokitansky-Küster-Hauser syndrome with congenital hypoplasia or aplasia of the uterus and upper part of the vagina. Frequently hypospadias repair and orchiopexy are difficult because of lack of buccal mucosa due to facial dysmorphism and intraabdominal position of the testicles, respectively...
March 17, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28217167/russell-silver-syndrome-associated-with-low-conus-medullaris
#2
Larisa Gabor, Huseyin Canaz, Gokhan Canaz, Nursu Kara, Ibrahim Alatas, Hakan Bozkus
Russell-Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry. It is rare to come across tethered cord-associated Russell-Silver syndrome. We report a rare case of Russell-Silver syndrome associated with low conus medullaris in a 2-year-old patient with demonstrative phenotype. Magnetic resonance imaging indicated a low conus medullaris at the inferior border of the L3 vertebral body...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28001454/metabolic-health-and-long-term-safety-of-growth-hormone-treatment-in-silver-russell-syndrome
#3
C C J Smeets, J S Renes, M van der Steen, A C S Hokken-Koelega
CONTEXT: Children with Silver-Russell syndrome (SRS) are born small for gestational age (SGA) and remain short. Growth hormone (GH)-treatment improves height in short SGA children, including those with SRS. Data on metabolic health and long-term safety of GH-treatment in SRS are lacking. OBJECTIVE: To investigate metabolic health in SRS patients during and until two years after discontinuation of GH-treatment. DESIGN: Metabolic health was assessed longitudinally at GH-start, GH-stop, and six months and two years thereafter...
December 21, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27998648/russell-silver-syndrome-presenting-with-ambiguous-genitalia
#4
I-Fan Chang, Yin-Hsiu Chien, Wen-Yu Tsai, Ni-Chung Lee
No abstract text is available yet for this article.
December 17, 2016: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/27798108/behavioural-abnormalities-in-a-novel-mouse-model-for-silver-russell-syndrome
#5
Grainne Iseult McNamara, Brittany Ann Davis, Dominic Michael Dwyer, Rosalind M John, Anthony Roger Isles
Silver Russell Syndrome (SRS) syndrome is an imprinting disorder involving low birth weight with complex genetics and diagnostics. Some rare SRS patients carry maternally inherited microduplications spanning the imprinted genes CDKN1C, PHLDA2, SLC22A18 and KCNQ1, suggesting that overexpression of one of more of these genes contributes to the SRS phenotype. While this molecular alteration is very rare, feeding difficulties are a very common feature of this condition. Given that SRS children also have very low body mass index, understanding the underpinning biology of the eating disorder is important, as well as potential co-occurring behavioural alterations...
October 24, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27701793/11p15-icr1-partial-deletions-associated-with-igf2-h19-dmr-hypomethylation-and-silver-russell-syndrome
#6
Walid Abi Habib, Frederic Brioude, Salah Azzi, Jennifer Salem, Cristina Das Neves, Claire Personnier, Sandra Chantot-Bastaraud, Boris Keren, Yves Le Bouc, Madeleine D Harbison, Irene Netchine
The 11p15 region harbors the IGF2/H19 imprinted domain, implicated in fetal and postnatal growth. Silver-Russell syndrome (SRS) is characterized by fetal and postnatal growth failure, and is caused principally by hypomethylation of the 11p15 imprinting control region 1 (ICR1). However, the mechanisms leading to ICR1 hypomethylation remain unknown. Maternally inherited genetic defects affecting the ICR1 domain have been associated with ICR1 hypermethylation and Beckwith-Wiedemann syndrome (an overgrowth syndrome, the clinical and molecular mirror of SRS), and paternal deletions of IGF2 enhancers have been detected in four SRS patients...
January 2017: Human Mutation
https://www.readbyqxmd.com/read/27621468/humanized-h19-igf2-locus-reveals-diverged-imprinting-mechanism-between-mouse-and-human-and-reflects-silver-russell-syndrome-phenotypes
#7
Stella K Hur, Andrea Freschi, Folami Ideraabdullah, Joanne L Thorvaldsen, Lacey J Luense, Angela H Weller, Shelley L Berger, Flavia Cerrato, Andrea Riccio, Marisa S Bartolomei
Genomic imprinting affects a subset of genes in mammals, such that they are expressed in a monoallelic, parent-of-origin-specific manner. These genes are regulated by imprinting control regions (ICRs), cis-regulatory elements that exhibit allele-specific differential DNA methylation. Although genomic imprinting is conserved in mammals, ICRs are genetically divergent across species. This raises the fundamental question of whether the ICR plays a species-specific role in regulating imprinting at a given locus...
September 27, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27612309/a-novel-igf2-h19-domain-triplication-in-the-11p15-5-imprinting-region-causing-either-beckwith-wiedemann-or-silver-russell-syndrome-in-a-single-family
#8
Dorota Jurkiewicz, Monika Kugaudo, Agata Skórka, Robert Śmigiel, Marta Smyk, Elżbieta Ciara, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek
Defects of 11p15.5 imprinting result in two growth disorders with opposite phenotypes: Beckwith-Wiedemann syndrome (BWS) characterized by overgrowth and Silver-Russell syndrome (SRS) associated with growth retardation. In a small group of patients with BWS and SRS, copy number variations (CNVs) involving the 11p15.5 region are observed; and their effects depend on the localization, size, and the parental mode of transmission. We report a novel IGF2/H19 domain cis-triplication in the 11p15.5 region identified in a girl with BWS and her father with symptoms of SRS...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27587987/silver-russell-syndrome-and-beckwith-wiedemann-syndrome-opposite-phenotypes-with-heterogeneous-molecular-etiology
#9
REVIEW
Katrin Õunap
Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 clinically opposite growth-affecting disorders belonging to the group of congenital imprinting disorders. The expression of both syndromes usually depends on the parental origin of the chromosome in which the imprinted genes reside. SRS is characterized by severe intrauterine and postnatal growth retardation with various additional clinical features such as hemihypertrophy, relative macrocephaly, fifth finger clinodactyly, and triangular facies...
July 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27585961/diagnosis-and-management-of-silver-russell-syndrome-first-international-consensus-statement
#10
Emma L Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M O'Connell, Jennifer Salem, Jet Bliek, Ana P M Canton, Krystyna H Chrzanowska, Justin H Davies, Renuka P Dias, Béatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Grønskov, Anita C S Hokken-Koelega, Alexander A Jorge, Masayo Kagami, Agnes Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E Moore, Philip G Murray, Tsutomu Ogata, Isabelle Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D Harbison, I Karen Temple, Deborah J G Mackay, Irène Netchine
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype...
February 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/27544718/a-novel-splice-site-mutation-of-fgd1-gene-in-an-aarskog-scott-syndrome-patient-with-a-large-anterior-fontanel
#11
Erhan Parıltay, Filiz Hazan, Esra Ataman, Korcan Demir, Özdal Etlik, Erhan Özbek, Behzat Özkan
Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. FGD1 regulates the actin cytoskeleton and regulates cell growth and differentiation by activating the c-Jun N-terminal kinase signaling cascade. ASS is characterized by craniofacial dysmorphism, short stature, interdigital webbing and shawl scrotum. However, there is a wide phenotypic heterogeneity because of the additional clinical features. ASS and some syndromes including the autosomal dominant inherited form of Robinow syndrome, Noonan syndrome, pseudohypoparathyroidism, Silver-Russel and SHORT syndrome have some overlapping phenotypic features...
September 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27468965/silver-russell-syndrome-in-hong-kong
#12
H M Luk, K S Yeung, W L Wong, B Hy Chung, T Mf Tong, I Fm Lo
OBJECTIVES: To examine the molecular pathogenetic mechanisms, (epi)genotype-phenotype correlation, and the performance of the three clinical scoring systems-namely Netchine et al, Bartholdi et al, and Birmingham scores-for patients with Silver-Russell syndrome in Hong Kong. METHODS: This retrospective case series was conducted at two tertiary genetic clinics, the Clinical Genetic Service, Department of Health, and clinical genetic clinic in Queen Mary Hospital in Hong Kong...
December 2016: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/27386972/new-clinical-and-molecular-insights-into-silver-russell-syndrome
#13
Eloïse Giabicani, Irène Netchine, Frédéric Brioude
PURPOSE OF REVIEW: The purpose of review is to summarize new outcomes for the clinical characterization, molecular strategies, and therapeutic management of Silver-Russell syndrome (SRS). RECENT FINDINGS: Various teams have described the clinical characteristics of SRS patients by genotype. A clinical score for the definition of SRS and for orienting molecular investigations has emerged. Insulin-like growth factor 2 (a major fetal growth factor) has been implicated in the pathophysiology of SRS, as the principle molecular mechanism underlying the disease is loss of methylation of the 11p15 region, including the imprinted insulin-like growth factor 2 gene...
August 2016: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/27374371/genomic-imbalance-in-the-centromeric-11p15-imprinting-center-in-three-families-further-evidence-of-a-role-for-ic2-as-a-cause-of-russell-silver-syndrome
#14
Cheryl Cytrynbaum, Karen Chong, Vickie Hannig, Sanaa Choufani, Cheryl Shuman, Leslie Steele, Thomas Morgan, Stephen W Scherer, Dimitri J Stavropoulos, Raveen K Basran, Rosanna Weksberg
Russell-Silver syndrome is a heterogeneous disorder characterized by intrauterine growth retardation, postnatal growth deficiency, characteristic facial appearance, and other variable features. Genetic and epigenetic alterations are identified in about 60% of individuals with Russell-Silver syndrome. Most frequently, Russell-Silver syndrome is caused by altered gene expression on chromosome 11p15 due to loss of methylation at the telomeric imprinting center. To date there have been a handful of isolated clinical reports implicating the centromeric imprinting center 2 in the etiology of Russell-Silver syndrome...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27370225/fgfr3-gene-mutation-plus-grb10-gene-duplication-in-a-patient-with-achondroplasia-plus-growth-delay-with-prenatal-onset
#15
Haiming Yuan, Linhuan Huang, Xizi Hu, Qian Li, Xiaofang Sun, Yingjun Xie, Shu Kong, Xiaoman Wang
BACKGROUND: Achondroplasia is a well-defined and common bone dysplasia. Genotype- and phenotype-level correlations have been found between the clinical symptoms of achondroplasia and achondroplasia-specific FGFR3 mutations. RESULT: A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was found to carry a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene at c.1138G > A (p.Gly380Arg) and a de novo 574 kb duplication at chromosome 7p12...
2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27313795/two-maternal-duplications-involving-the-cdkn1c-gene-are-associated-with-contrasting-growth-phenotypes
#16
Susanne Eriksen Boonen, Andrea Freschi, Rikke Christensen, Federica Maria Valente, Dorte Launholt Lildballe, Lucia Perone, Orazio Palumbo, Massimo Carella, Niels Uldbjerg, Angela Sparago, Andrea Riccio, Flavia Cerrato
BACKGROUND: The overgrowth-associated Beckwith-Wiedemann syndrome (BWS) and the undergrowth-associated Silver-Russell syndrome (SRS) are characterized by heterogeneous molecular defects affecting a large imprinted gene cluster at chromosome 11p15.5-p15.4. While maternal and paternal duplications of the entire cluster consistently result in SRS and BWS, respectively, the phenotypes associated with smaller duplications are difficult to predict due to the complexity of imprinting regulation...
2016: Clinical Epigenetics
https://www.readbyqxmd.com/read/27256967/mulibrey-nanism-two-novel-mutations-in-a-child-identified-by-array-cgh-and-dna-sequencing
#17
Enza Mozzillo, Carla Cozzolino, Rita Genesio, Daniela Melis, Giulia Frisso, Ada Orrico, Barbara Lombardo, Valentina Fattorusso, Valentina Discepolo, Roberto Della Casa, Francesca Simonelli, Lucio Nitsch, Francesco Salvatore, Adriana Franzese
In childhood, several rare genetic diseases have overlapping symptoms and signs, including those regarding growth alterations, thus the differential diagnosis is sometimes difficult. The proband, aged 3 years, was suspected to have Silver-Russel syndrome because of intrauterine growth retardation, postnatal growth retardation, typical facial dysmorphic features, macrocephaly, body asymmetry, and bilateral fifth finger clinodactyly. Other features were left atrial and ventricular enlargement and patent foramen ovale...
August 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27200075/epigenetic-characterization-of-cdkn1c-in-placenta-samples-from-non-syndromic-intrauterine-growth-restriction
#18
Miriam López-Abad, Isabel Iglesias-Platas, David Monk
The cyclin-dependent kinase (CDK)-inhibitor 1C (CDKN1C) gene is expressed from the maternal allele and is located within the centromeric imprinted domain at chromosome 11p15. It is a negative regulator of proliferation, with loss-of-function mutations associated with the overgrowth disorder Beckwith-Wiedemann syndrome. Recently, gain-of-function mutations within the PCNA domain have been described in two disorders characterized by growth failure, namely IMAGe (intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital abnormalities) syndrome and Silver-Russell syndrome (SRS)...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27172843/nsd1-duplication-in-silver-russell-syndrome-srs-molecular-karyotyping-in-patients-with-srs-features
#19
J Sachwitz, R Meyer, G Fekete, S Spranger, A Matulevičienė, V Kučinskas, A Bach, A Luczay, N O Brüchle, K Eggermann, K Zerres, M Elbracht, T Eggermann
Silver-Russell syndrome (SRS) is a growth retardation syndrome characterized by intrauterine and postnatal growth retardation, relative macrocephaly and protruding forehead, body asymmetry and feeding difficulties. Nearly 50% of cases show a hypomethylation in 11p15.5, in 10% maternal uniparental disomy of chromosome 7 is present. A significant number of patients with SRS features also exhibit chromosomal aberrations. We analyzed 43 individuals referred for SRS genetic testing by molecular karyotyping. Pathogenic variants could be detected in five of them, including a NSD1 duplication in 5q35 and a 14q32 microdeletion...
January 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27165005/emqn-best-practice-guidelines-for-the-molecular-genetic-testing-and-reporting-of-chromosome-11p15-imprinting-disorders-silver-russell-and-beckwith-wiedemann-syndrome
#20
Katja Eggermann, Jet Bliek, Frédéric Brioude, Elizabeth Algar, Karin Buiting, Silvia Russo, Zeynep Tümer, David Monk, Gudrun Moore, Thalia Antoniadi, Fiona Macdonald, Irène Netchine, Paolo Lombardi, Lukas Soellner, Matthias Begemann, Dirk Prawitt, Eamonn R Maher, Marcel Mannens, Andrea Riccio, Rosanna Weksberg, Pablo Lapunzina, Karen Grønskov, Deborah Jg Mackay, Thomas Eggermann
Molecular genetic testing for the 11p15-associated imprinting disorders Silver-Russell and Beckwith-Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. With the growing knowledge on the molecular basis of these disorders and the demand for molecular testing, it turned out that there is an urgent need for a standardized molecular diagnostic testing and reporting strategy. Based on the results from the first external pilot quality assessment schemes organized by the European Molecular Quality Network (EMQN) in 2014 and in context with activities of the European Network of Imprinting Disorders (EUCID...
October 2016: European Journal of Human Genetics: EJHG
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