Sotos Syndrome

Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.

Also Known As:

Networked: 85 relevant articles (1 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Mental Retardation (Idiocy)
2.	Sotos Syndrome
3.	Rett Syndrome (Rett's Disorder)
4.	Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi)
5.	De Lange Syndrome (Cornelia De Lange Syndrome)

Experts

1.	Visser, Remco: 3 articles (01/2011 - 09/2005)
2.	Weksberg, R: 2 articles (01/2015 - 08/2001)
3.	Lapunzina, Pablo: 2 articles (09/2011 - 08/2005)
4.	Cormier-Daire, Valérie: 2 articles (02/2010 - 08/2005)
5.	Colleaux, Laurence: 2 articles (02/2010 - 08/2005)
6.	Munnich, Arnold: 2 articles (02/2010 - 08/2005)
7.	Matsumoto, Naomichi: 2 articles (03/2008 - 01/2006)
8.	Rahman, Nazneen: 2 articles (03/2007 - 01/2003)
9.	Shen, Joseph J: 2 articles (09/2005 - 02/2005)
10.	Wit, J M: 2 articles (09/2004 - 04/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Sotos Syndrome:

1.	Methylphenidate (Ritalin)FDA LinkGeneric 01/01/2009 - "Efficacy of methylphenidate treatment in Sotos syndrome."
2.	Weaver syndromeIBA 02/01/2010 - "In this study, we report on the analysis using a 1-Mb resolution array-based comparative genomic hybridization (CGH) of 93 patients with either a recognizable overgrowth condition (ie, Sotos syndrome or Weaver syndrome) or an unclassified overgrowth syndrome. " 01/01/2012 - "Clinically, Weaver syndrome is closely related to Sotos syndrome, which is frequently caused by mutations in NSD1. " 02/01/2010 - "Most of the patients with Sotos syndrome have NSD1 gene deletions or mutations; however, the molecular basis of most of the Weaver syndrome patients is unknown. " 05/01/2007 - "She has camptodactyly which has not previously been reported in Sotos syndrome but is a common finding in Weaver syndrome. " 09/20/2005 - "Thirty-six Chinese patients with Sotos syndrome and two patients with Weaver syndrome were subject to molecular testing. "
3.	histone methyltransferaseIBA 01/01/2015 - "Sotos syndrome is a common genetic overgrowth syndrome caused by a mutation of the NSD1 gene, which is located at chromosome 5q35 and normally encodes a histone methyltransferase protein. " 01/01/2012 - "Up to 90% of individuals affected by Sotos syndrome have a pathogenic alteration of NSD1 (encodes nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1), a histone methyltransferase that functions as both a transcriptional activator and a repressor. " 01/01/2015 - "Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome caused by mutations in a histone methyltransferase, NSD1. " 03/01/2007 - "In 2002, Sotos syndrome was shown to be caused by mutations and deletions of NSD1, which encodes a histone methyltransferase implicated in chromatin regulation. " 03/11/2011 - "The Sotos syndrome gene product, NSD1, is a SET domain histone methyltransferase that primarily dimethylates nucleosomal histone H3 lysine 36 (H3K36). "
4.	Somatomedins (Somatomedin)IBA 07/01/1985 - "An in depth study on growth, bone age, cranial CT scans and plasma somatomedin activity (SM-act) was made of 22 children with Sotos syndrome. " 04/01/1983 - "In five cases of Sotos Syndrome serum somatomedin activities were measured. " 04/01/2004 - "Plasma insulin-like growth factors (IGFs), IGF-Binding proteins (IGFBPs), acid-labile subunit (ALS) and IGFBP-3 proteolysis in individuals with clinical characteristics of Sotos syndrome."
5.	CollagenIBA 06/01/1998 - "In the present study, we have demonstrated that the collagen production, secretion and degradation in Sotos syndrome is comparable to controls. " 06/01/1998 - "Therefore, it appears that the advanced bone age and accelerated linear growth seen in patients with Sotos syndrome may not be attributed to inherent abnormalities of collagen metabolism. " 06/01/1998 - "Accelerated linear growth and advanced bone age in Sotos syndrome is not associated with abnormalities of collagen metabolism." 06/01/1998 - "Our results on several aspects of collagen metabolism have demonstrated for the first time that collagen, the most abundant of mammalian proteins and the major constituent of bone, is normal in patients with Sotos syndrome. " 06/01/1998 - "The metabolism of collagen was studied by analyzing the production, gene expression and degradation of type I collagen in dermal fibroblast strains from patients with Sotos syndrome and comparing them with fibroblasts from age-matched healthy subjects. "
6.	Growth Hormone (Somatotropin)IBA 02/01/1993 - "Growth hormone hypersecretion in Sotos' syndrome?" 04/06/1973 - "[Growth and growth hormone in "cerebral gigantism"]." 02/01/1968 - "[Cerebral gigantism in children: determination of growth hormone in the plasma]." 07/01/1967 - "Cerebral gigantism--inappropriate secretion of growth hormone?" 01/01/2012 - "Based on growth hormone (GH) secretion evaluation, 2 groups were observed: pituitary gigantism (n = 16): GH = 150 ± 252 ng/ml (n ≤ 5), and other causes with normal GH (0.7 ± 0.6 ng/ml): 6 Sotos syndrome and 8 idiopathic cases. "
7.	Histones (Histone)IBA 03/01/2011 - "To gain insight into the biochemical basis of Sotos syndrome, we tested the ability of each NSD1 PHD domain to bind histone H3 when methylated at regulatory sites Lys4, Lys9, Lys27, Lys36, and Lys79, and histone H4 at regulatory Lys20, and determined whether Sotos point mutations disrupted methylation site-specific binding. " 12/01/2010 - "Haploinsufficiency for some histone methyltransferases, one of the principal modifiers of the histone modification network, are associated with particular congenital diseases, including Sotos syndrome, Wolf-Hirschhorn syndrome, and 9q syndrome. " 05/01/2013 - "Also, genetic variants of chromatin remodeling proteins and histone tail modifiers are involved in genetic disorders like α thalassemia X-linked mental retardation syndrome, CHARGE syndrome, Cockayne syndrome, Rett syndrome, systemic lupus erythematous, Rubinstein-Taybi syndrome, Coffin-Lowry syndrome, Sotos syndrome, and facioescapulohumeral syndrome, among others. " 03/11/2011 - "The Sotos syndrome gene product, NSD1, is a SET domain histone methyltransferase that primarily dimethylates nucleosomal histone H3 lysine 36 (H3K36). " 04/01/2013 - "Over the last decade it has become increasingly clear that mutations of genes involved in epigenetic mechanism, such as DNA methyltransferases, methyl-binding domain proteins, histone deacetylases, histone methylases and members of the SWI/SNF family of chromatin remodelers are linked to human disorders, including Immunodeficiency Centromeric instability Facial syndrome 1, Rett syndrome, Rubinstein-Taybi syndrome, Sotos syndrome or alpha-thalassemia/mental retardation X-linked syndrome, among others. "
8.	DNA (Deoxyribonucleic Acid)IBA 09/01/2015 - "The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. " 11/01/2005 - "Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions." 01/01/1997 - "Using 112 dinucleotide repeat DNA polymorphisms, we have examined parental inheritance of all autosome pairs, except chromosome 15, in 29 patients with Sotos syndrome. " 11/01/2015 - "Two frameshift mutations and a donor-splice one caused MSS, while two missense mutations in the DNA binding/dimerisation domain entailed an overgrowth syndrome with some clinical features resembling Sotos syndrome, accompanied by a marfanoid habitus, very low BMI, long narrow face, or arachnodactyly. " 04/01/2013 - "Over the last decade it has become increasingly clear that mutations of genes involved in epigenetic mechanism, such as DNA methyltransferases, methyl-binding domain proteins, histone deacetylases, histone methylases and members of the SWI/SNF family of chromatin remodelers are linked to human disorders, including Immunodeficiency Centromeric instability Facial syndrome 1, Rett syndrome, Rubinstein-Taybi syndrome, Sotos syndrome or alpha-thalassemia/mental retardation X-linked syndrome, among others. "
9.	Proteins (Proteins, Gene)IBA 12/01/2011 - "NSD1 and NSD2 were isolated as genes linked to developmental diseases, such as Sotos syndrome and Wolf-Hirschhorn syndrome, respectively, implying versatile aspects of the NSD proteins. " 06/01/1998 - "Our results on several aspects of collagen metabolism have demonstrated for the first time that collagen, the most abundant of mammalian proteins and the major constituent of bone, is normal in patients with Sotos syndrome. " 05/01/2013 - "Also, genetic variants of chromatin remodeling proteins and histone tail modifiers are involved in genetic disorders like α thalassemia X-linked mental retardation syndrome, CHARGE syndrome, Cockayne syndrome, Rett syndrome, systemic lupus erythematous, Rubinstein-Taybi syndrome, Coffin-Lowry syndrome, Sotos syndrome, and facioescapulohumeral syndrome, among others. " 04/01/2013 - "Over the last decade it has become increasingly clear that mutations of genes involved in epigenetic mechanism, such as DNA methyltransferases, methyl-binding domain proteins, histone deacetylases, histone methylases and members of the SWI/SNF family of chromatin remodelers are linked to human disorders, including Immunodeficiency Centromeric instability Facial syndrome 1, Rett syndrome, Rubinstein-Taybi syndrome, Sotos syndrome or alpha-thalassemia/mental retardation X-linked syndrome, among others. "
10.	Simpson-Golabi-Behmel syndromeIBA 06/01/2012 - "This article provides a comprehensive review of the prenatal findings and the genetic diagnosis of some of the pathological prenatal-onset overgrowth disorders, such as Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome." 06/01/2012 - "Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome." 06/01/2009 - "This occurs also in androgen-deficient states, such as the Klinefelter syndrome and some more genetic syndromes, of which the Simpson-Golabi-Behmel syndrome, the Sotos syndrome, the Marfan syndrome, the homocystinuria, and the fragile X-syndrome may be mentioned. " 08/15/2005 - "Two groups are distinguished: group I corresponding to patients with recognizable overgrowth syndromes (Sotos syndrome (SS), Weaver syndrome (WS), Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome (SGBS), and del(22)(qter) syndrome) (60 cases) and group II corresponding to unclassified cases (15 patients). " 02/15/2003 - "Mental deficiency, alterations in performance, and central nervous system (CNS) abnormalities are discussed in the following overgrowth syndromes: Sotos syndrome, Weaver syndrome, Proteus syndrome, neurofibromatosis type 1, fragile X syndrome, syndromes with neonatal hypoglycemia, Simpson-Golabi-Behmel syndrome, hemihyperplasia, Sturge-Weber syndrome, Bannayan-Riley-Ruvalcaba/Cowden syndrome, macrocephaly-autism syndrome, PEHO syndrome, chromosomal syndromes, and other miscellaneous syndromes."

Therapies and Procedures

1.	Ligation 09/01/2009 - "To detect both 5q35 microdeletions and partial NSD1 gene deletions we screened 30 Brazilian patients with clinical diagnosis of Sotos syndrome by multiplex ligation dependent probe amplification. " 09/01/2005 - "Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification." 01/01/2008 - "Multiplex Ligation-dependent Probe Amplification was applied to screen for nine microdeletions/duplications related to ID syndromes (Williams 22q11-deletion, 1p-deletion, Miller-Dieker, Smith-Magenis, Prader-Willi, Alagille, Saethre-Chotzen and Sotos syndrome). " 02/01/2009 - "Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work. "
2.	Distraction Osteogenesis 01/01/2012 - "A case of Sotos syndrome treated with distraction osteogenesis in maxilla and mandible."
3.	Transplants (Transplant) 09/01/2011 - "She is notable for the diagnosis of Sotos syndrome late in life, mild cognitive limitation, and chronic kidney disease attributed to fibromuscular dysplasia for which she recently received a transplant. "
4.	Spinal Fusion (Spondylosyndesis) 06/01/1991 - "Posterior spinal fusion in Sotos' syndrome."
5.	Rehabilitation 05/01/1994 - "Since many of our subjects exhibited these amblyogenic precursors, a routine optometric vision evaluation should be an essential part of the individual educational and habilitation plan for all children with Sotos syndrome."