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[PMID]: 29410178
[Au] Autor:Jeong Y; Kim T; Kim S; Hong YK; Cho KS; Lee IS
[Ad] Address:Department of Biological Sciences, Konkuk University, 120 Neungdong-ro, Gwangjin-gu, Seoul 05029, Republic of Korea.
[Ti] Title:Overexpression of histone methyltransferase NSD in Drosophila induces apoptotic cell death via the Jun-N-terminal kinase pathway.
[So] Source:Biochem Biophys Res Commun;496(4):1134-1140, 2018 02 19.
[Is] ISSN:1090-2104
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The nuclear receptor-binding SET domain protein gene (NSD) family encodes a group of highly conserved SET domain-containing histone lysine methyltransferases that are important in multiple aspects of development in various organisms. The association of NSD1 duplications has been reported with growth retardation diseases in humans. In this study, to gain insight into the molecular mechanisms by which the overexpression of NSD1 influences the disease progression, we analyzed the gain-of-function mutant phenotypes of the Drosophila NSD using the GAL4/UAS system. Ubiquitous overexpression of NSD in the fly caused developmental delay and reduced body size at the larval stage, resulting in pupal lethality. Moreover, targeted overexpression in various developing tissues led to significant phenotype alterations, and the gain-of-function phenotypes were rescued by NSD RNAi knockdown. We also demonstrated that NSD overexpression not only enhanced the transcription of pro-apoptotic genes but also activated caspase. The atrophied phenotype of NSD-overexpressing wing was strongly suppressed by a loss-of-function mutation in hemipterous, which encodes a Drosophila Jun N-terminal kinase. Taken together, our findings suggest that NSD induces apoptosis via the activation of JNK, and thus contributes to the understanding of the molecular mechanisms involved in NSD1-related diseases in humans.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1802
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:In-Process

  2 / 437 MEDLINE  
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[PMID]: 29395883
[Au] Autor:Vergier J; Marquant E; Busa T; Reynaud R
[Ad] Address:Service de pédiatrie multidisciplinaire, hôpital Timone Enfants, Assistance publique des hôpitaux de Marseille, 264, rue Saint-Pierre, 13385 Marseille, France. Electronic address: julia.vergier@ap-hm.fr.
[Ti] Title:Exploration d'une avance staturale chez l'enfant : conduite à tenir pratique, principales étiologies à évoquer. [Investigation of tall stature in children: Diagnostic work-up, review of the main causes].
[So] Source:Arch Pediatr;25(2):163-169, 2018 Feb.
[Is] ISSN:1769-664X
[Cp] Country of publication:France
[La] Language:fre
[Ab] Abstract:Tall stature is not a common motive for medical consultation, even though by definition 2.5 % of children in the general population are concerned. It is usually defined as height greater than+2 standard deviations (SD) using the appropriate growth chart for age and gender, or a difference greater than +2 SD between actual height and target height. With a patient presenting tall stature, the physician has to determine whether it is a benign feature or a disease. Indeed, making the diagnosis is essential for hormonal disease or genetic overgrowth syndromes. The past medical history including parents' height, prenatal and birth data, physical examination along with anthropometry (height, weight, head circumference, body mass index), and growth chart evaluation with the detailed growth pattern are generally sufficient to make the diagnosis such as familial tall stature, obesity, or early puberty. Bone age estimation may be helpful for some specific etiologies and is also necessary to help predict final adult height. After exclusion of common causes, further investigation is required. Sudden growth acceleration often reveals endocrine pathology such as early puberty, hyperthyroidism, or acrogigantism. Tall stature accompanied by dysmorphic features, congenital malformations, developmental delay, or a family medical history may be related to genetic disorders such as Marfan, Sotos, or Wiedemann-Beckwith syndromes. We relate here the most frequent etiologies of overgrowth syndromes.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180221
[Lr] Last revision date:180221
[St] Status:In-Process

  3 / 437 MEDLINE  
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[PMID]: 29383847
[Au] Autor:Takenouchi T; Uehara T; Kosaki K; Mizuno S
[Ad] Address:Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
[Ti] Title:Growth pattern of Rahman syndrome.
[So] Source:Am J Med Genet A;176(3):712-714, 2018 Mar.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Recently, in a cohort study with "overgrowth syndrome with intellectual disability," five subjects were reported to have de novo heterozygous truncating variants in HIST1H1E, which encodes linker histone H 1.4. However, their growth pattern appeared complex that four out of five patients had a decreasing height percentile over time, and three of these patients began with above-average heights but exhibited reductions to average heights or below when they were older. Herein, we report a female patient with intellectual disability and distinctive facial features including a wide nasal bridge and prominent cheek bones. She did not exhibit skeletal overgrowth, but she had a short stature at 21 years of age. An exome analysis identified a de novo heterozygous 1-bp duplication in HIST1H1E, that is, c.433dup p.(Ala145Glyfs*51). The physical features of the proposita were essentially the same as those observed in patients with the aforementioned HIST1H1E-related overgrowth syndrome. Our review of the growth trajectories in seven patients showed that five of seven patients did not exhibit skeletal overgrowth. This "lack of overgrowth in overgrowth syndrome" is reminiscent of a subset of patients with a short stature who have Sotos syndrome, a prototypic overgrowth syndrome. Considering this complexity in growth, this newly identified condition should be referred to as Rahman syndrome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180215
[Lr] Last revision date:180215
[St] Status:In-Data-Review
[do] DOI:10.1002/ajmg.a.38616

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[PMID]: 29304373
[Au] Autor:Aref-Eshghi E; Rodenhiser DI; Schenkel LC; Lin H; Skinner C; Ainsworth P; Paré G; Hood RL; Bulman DE; Kernohan KD; Boycott KM; Campeau PM; Schwartz C; Sadikovic B; Care4Rare Canada Consortium
[Ad] Address:Department of Pathology and Laboratory Medicine, Western University, London, ON N6A5C1, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
[Ti] Title:Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.
[So] Source:Am J Hum Genet;102(1):156-174, 2018 Jan 04.
[Is] ISSN:1537-6605
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Pediatric developmental syndromes present with systemic, complex, and often overlapping clinical features that are not infrequently a consequence of Mendelian inheritance of mutations in genes involved in DNA methylation, establishment of histone modifications, and chromatin remodeling (the "epigenetic machinery"). The mechanistic cross-talk between histone modification and DNA methylation suggests that these syndromes might be expected to display specific DNA methylation signatures that are a reflection of those primary errors associated with chromatin dysregulation. Given the interrelated functions of these chromatin regulatory proteins, we sought to identify DNA methylation epi-signatures that could provide syndrome-specific biomarkers to complement standard clinical diagnostics. In the present study, we examined peripheral blood samples from a large cohort of individuals encompassing 14 Mendelian disorders displaying mutations in the genes encoding proteins of the epigenetic machinery. We demonstrated that specific but partially overlapping DNA methylation signatures are associated with many of these conditions. The degree of overlap among these epi-signatures is minimal, further suggesting that, consistent with the initial event, the downstream changes are unique to every syndrome. In addition, by combining these epi-signatures, we have demonstrated that a machine learning tool can be built to concurrently screen for multiple syndromes with high sensitivity and specificity, and we highlight the utility of this tool in solving ambiguous case subjects presenting with variants of unknown significance, along with its ability to generate accurate predictions for subjects presenting with the overlapping clinical and molecular features associated with the disruption of the epigenetic machinery.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180201
[Lr] Last revision date:180201
[St] Status:In-Data-Review

  5 / 437 MEDLINE  
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[PMID]: 27771801
[Au] Autor:Lane C; Milne E; Freeth M
[Ad] Address:Department of Psychology, The University of Sheffield, Western Bank, Sheffield, S10 2TP, UK. clane2@sheffield.ac.uk.
[Ti] Title:Characteristics of Autism Spectrum Disorder in Sotos Syndrome.
[So] Source:J Autism Dev Disord;47(1):135-143, 2017 01.
[Is] ISSN:1573-3432
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Sotos syndrome is a congenital overgrowth disorder with an incidence of approximately 1 in 14,000. This study investigated behavioural characteristics of ASD within a large cohort of individuals with Sotos syndrome (n = 78). As measured by the Social Responsiveness Scale, second edition (SRS-2), 65 participants (83.33 %) met clinical cut-off (T-score ≥60). There was no significant gender difference in symptom severity. There was a significant effect of age, with lower scores observed in early childhood and adulthood, compared to childhood. Furthermore, individuals with Sotos syndrome appear to display a trait profile that is similar to that identified in ASD. Overall, these findings indicate that the majority of individuals with Sotos syndrome display clinically significant behavioural symptomatology associated with ASD.
[Mh] MeSH terms primary: Autism Spectrum Disorder/psychology
Severity of Illness Index
Sotos Syndrome/psychology
[Mh] MeSH terms secundary: Adolescent
Adult
Age Factors
Child
Child, Preschool
Female
Humans
Male
Middle Aged
Sex Factors
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1710
[Cu] Class update date: 180119
[Lr] Last revision date:180119
[Js] Journal subset:IM
[Da] Date of entry for processing:161025
[St] Status:MEDLINE
[do] DOI:10.1007/s10803-016-2941-z

  6 / 437 MEDLINE  
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[PMID]: 29336120
[Au] Autor:Lane C; Milne E; Freeth M
[Ad] Address:Department of Psychology, University of Sheffield, UK.
[Ti] Title:The cognitive profile of Sotos syndrome.
[So] Source:J Neuropsychol;, 2018 Jan 15.
[Is] ISSN:1748-6653
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Sotos syndrome is a congenital overgrowth disorder, associated with intellectual disability. Previous research suggests that Sotos syndrome may be associated with relative strength in verbal ability and relative weakness in non-verbal reasoning ability but this has not been explicitly assessed. To date, the cognitive profile of Sotos syndrome is unknown. Cognitive abilities of a large and representative sample of individuals with Sotos syndrome (N = 52) were assessed using the British Ability Scales (BAS3). The majority of participants had intellectual disability or borderline intellectual functioning. The cluster score profile analysis revealed a consistent verbal ability > non-verbal reasoning ability profile. Four specific criteria were proposed as the Sotos syndrome cognitive profile (SSCP): verbal ability > non-verbal reasoning ability; quantitative reasoning T-score or matrices T-score <20th percentile; quantitative reasoning T-score < mean T-score; recognition of designs T-score or recognition of pictures T-score > mean T-score. Of the 35 participants included in the profile analysis, 28 met all four SSCP criteria, yielding a sensitivity of 0.8. The sensitivity of each of the SSCP criteria was >0.9. Individuals with Sotos syndrome display a clear and consistent cognitive profile, characterized by relative strength in verbal ability and visuospatial memory but relative weakness in non-verbal reasoning ability and quantitative reasoning. This has important implications for the education of individuals with Sotos syndrome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180116
[Lr] Last revision date:180116
[St] Status:Publisher
[do] DOI:10.1111/jnp.12146

  7 / 437 MEDLINE  
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[PMID]: 28457852
[Au] Autor:Han JY; Lee IG; Jang W; Shin S; Park J; Kim M
[Ad] Address:Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
[Ti] Title:Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome.
[So] Source:Clin Chim Acta;470:31-35, 2017 Jul.
[Is] ISSN:1873-3492
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Sotos syndrome is a congenital overgrowth disorder characterized by facial gestalt, excessively rapid growth, acromegalic features and a non-progressive cerebral disorder with intellectual disability. METHODOLOGY: The identical male twins showed somewhat different clinical, cognitive and behavioural phenotypes. Abnormal clinical manifestations including seizures, scoliosis, enlarged ventricles, and attention-deficit/hyperactivity disorder (ADHD) were found in the proband (first twin), but not in the sibling (second twin). We used diagnostic exome sequencing (DES) to identify a heterozygous de novo mutation of the NSD1 gene in monozygotic twins with Sotos syndrome. RESULTS: DES revealed a novel nonsense mutation c.2596G>T (p.Glu866*) of the NSD1 gene in the proband, the first of monozygotic twins. Sanger sequencing analysis of the proband and his family members showed that this nonsense mutation was present in the proband and his sibling, but was absent in their parents, indicating that it occurred with de novo origin. CONCLUSION: This finding expands the phenotypic spectrum associated with variable expression of the Sotos syndrome caused by NSD1 mutation, and it adds further support for postconceptual mutation, epigenetic change and/or an environmental factor involved in the cause of the Sotos syndrome.
[Mh] MeSH terms primary: Codon, Nonsense
Intracellular Signaling Peptides and Proteins/genetics
Nuclear Proteins/genetics
Sotos Syndrome/genetics
Twins, Monozygotic/genetics
[Mh] MeSH terms secundary: Brain/diagnostic imaging
Child
Female
Humans
Magnetic Resonance Imaging
Male
Pedigree
Phenotype
Sotos Syndrome/diagnostic imaging
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Codon, Nonsense); 0 (Intracellular Signaling Peptides and Proteins); 0 (NSD1 protein, human); 0 (Nuclear Proteins)
[Em] Entry month:1801
[Cu] Class update date: 180108
[Lr] Last revision date:180108
[Js] Journal subset:IM
[Da] Date of entry for processing:170502
[St] Status:MEDLINE

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[PMID]: 29213088
[Au] Autor:Brennan K; Shin JH; Tay JK; Prunello M; Gentles AJ; Sunwoo JB; Gevaert O
[Ad] Address:Department of Medicine, Stanford Center for Biomedical Informatics Research, Stanford University, Stanford, USA.
[Ti] Title:NSD1 inactivation defines an immune cold, DNA hypomethylated subtype in squamous cell carcinoma.
[So] Source:Sci Rep;7(1):17064, 2017 Dec 06.
[Is] ISSN:2045-2322
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Chromatin modifying enzymes are frequently mutated in cancer, resulting in widespread epigenetic deregulation. Recent reports indicate that inactivating mutations in the histone methyltransferase NSD1 define an intrinsic subtype of head and neck squamous cell carcinoma (HNSC) that features pronounced DNA hypomethylation. Here, we describe a similar hypomethylated subtype of lung squamous cell carcinoma (LUSC) that is enriched for both inactivating mutations and deletions in NSD1. The 'NSD1 subtypes' of HNSC and LUSC are highly correlated at the DNA methylation and gene expression levels, featuring ectopic expression of developmental transcription factors and genes that are also hypomethylated in Sotos syndrome, a congenital disorder caused by germline NSD1 mutations. Further, the NSD1 subtype of HNSC displays an 'immune cold' phenotype characterized by low infiltration of tumor-associated leukocytes, particularly macrophages and CD8 T cells, as well as low expression of genes encoding the immunotherapy target PD-1 immune checkpoint receptor and its ligands. Using an in vivo model, we demonstrate that NSD1 inactivation results in reduced T cell infiltration into the tumor microenvironment, implicating NSD1 as a tumor cell-intrinsic driver of an immune cold phenotype. NSD1 inactivation therefore causes epigenetic deregulation across cancer sites, and has implications for immunotherapy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171220
[Lr] Last revision date:171220
[St] Status:In-Data-Review
[do] DOI:10.1038/s41598-017-17298-x

  9 / 437 MEDLINE  
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[PMID]: 29184170
[Au] Autor:Trimouille A; Houcinat N; Vuillaume ML; Fergelot P; Boucher C; Toutain J; Caignec CL; Vincent M; Nizon M; Andrieux J; Vanlerberghe C; Delobel B; Duban B; Mansour S; Baple E; McKeown C; Poke G; Robertshaw K; Fifield E; Fabretto A; Pecile V; Gasparini P; Carrozzi M; Lacombe D; Arveiler B; Rooryck C; Moutton S
[Ad] Address:Department of Medical Genetics, CHU Bordeaux, Bordeaux, France. aurelien.trimouille@chu-bordeaux.fr.
[Ti] Title:19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
[So] Source:Eur J Hum Genet;, 2017 Nov 28.
[Is] ISSN:1476-5438
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Syndromes caused by copy number variations are described as reciprocal when they result from deletions or duplications of the same chromosomal region. When comparing the phenotypes of these syndromes, various clinical features could be described as reversed, probably due to the opposite effect of these imbalances on the expression of genes located at this locus. The NFIX gene codes for a transcription factor implicated in neurogenesis and chondrocyte differentiation. Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan syndrome), a syndromic form of intellectual disability associated with overgrowth and macrocephaly. Here, we report a cohort of nine patients harboring microduplications encompassing NFIX. These patients exhibit variable intellectual disability, short stature and small head circumference, which can be described as a reversed Sotos syndrome-2 phenotype. Strikingly, such a reversed phenotype has already been described in patients harboring microduplications encompassing NSD1, the gene whose deletions and loss-of-function variants are responsible for classical Sotos syndrome. Even though the type/contre-type concept has been criticized, this model seems to give a plausible explanation for the pathogenicity of 19p13 microduplications, and the common phenotype observed in our cohort.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171129
[Lr] Last revision date:171129
[St] Status:Publisher
[do] DOI:10.1038/s41431-017-0037-7

  10 / 437 MEDLINE  
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[PMID]: 29164086
[Au] Autor:Laccetta G; Moscuzza F; Michelucci A; Guzzetta A; Lunardi S; Lorenzoni F; Ghirri P
[Ad] Address:Department of Maternal and Child Health, Division of Neonatology and Neonatal Intensive Care Unit, Santa Chiara Hospital, University of Pisa, Pisa, Italy.
[Ti] Title:A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome.
[So] Source:Front Pediatr;5:236, 2017.
[Is] ISSN:2296-2360
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th-50th centiles; length 50 cm, 75th centile; head circumference 36 cm, 97th centile) showing cryptorchidism on the right side, hypertelorism, dolichocephaly, broad and prominent forehead, and narrow jaw; the pregnancy was worsened by maternal preeclampsia and gestational diabetes, and his mother had a previous history of four early miscarriages. The patient showed neonatal jaundice, hypotonia, feeding difficulties, frequent vomiting, and gastroesophageal reflux. After the age of 6 months, his weight, length, and head circumference were above the 97th centile; psychomotor development was delayed. At the age of 9 years, the patient showed also joint laxity and scoliosis. DNA sequence analysis of NSD1 gene detected a novel heterozygous mutation (c.521T>A, p.Val174Asp) in exon 2. The same mutant allele was also found in the mother and in the maternal grandfather of the proband; both the mother and the maternal grandfather of the proband showed isolated overgrowth with height above the 97th centile in absence of other features of SoS. At present 23 familial cases of SoS have been described (two cases with mutation in exon 2 of NSD1 gene); no familial cases of SoS with mutation of NSD1 gene and isolated overgrowth have been reported. Probably, point mutations of NSD1 gene, and particularly mutations between exon 20 and exon 23, are not likely to affect reproductive fitness. Epigenetic mechanisms and intrauterine environment may influence phenotypes, therefore genetic tests are not useful to predict the phenotype but they are indispensable for the diagnosis of SoS. This is the first Italian familial case of SoS with genetic confirmation and the third report in which a missense mutation of NSD1 gene is found in three generations of the same family.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171126
[Lr] Last revision date:171126
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.3389/fped.2017.00236


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