Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Sotos syndrome 1

Cerebral gigantism is an autosomal dominant disorder caused by mutations of the NSD1 gene. Besides excessive growths of trunk and skull, intellectual disability is chracteristic.

Systematic

Short stature
Acrocapitofemoral dysplasia
Brachydactyly
Short stature, SHOX-linked
Sotos syndrome 1
NSD1
Syndromic growth retardation

References:

1.

Imaizumi K et al. (2002) Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).

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2.

Kurotaki N et al. (2002) Haploinsufficiency of NSD1 causes Sotos syndrome.

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3.

Douglas J et al. (2003) NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

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4.

Höglund P et al. (2003) Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene.

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5.

Kurotaki N et al. (2003) Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

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6.

Türkmen S et al. (2003) Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

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7.

Baujat G et al. (2004) Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

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8.

Kurotaki N et al. (2005) Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

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9.

Melchior L et al. (2005) dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations.

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10.

Tatton-Brown K et al. (2005) Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

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11.

van Haelst MM et al. (2005) Familial gigantism caused by an NSD1 mutation.

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12.

Kanemoto N et al. (2006) Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?

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13.

Zonana J et al. (1977) Dominant inheritance of cerebral gigantism.

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14.

Hansen FJ et al. (1976) Familial occurrence of cerebral gigantism, Sotos' syndrome.

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15.

Cole TR et al. (1992) Small cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions?

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16.

Tsukahara M et al. (1991) High resolution-banded chromosomes from patients with Sotos syndrome.

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17.

Cole TR et al. (1990) Sotos syndrome.

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18.

Nance MA et al. (1990) Neuroblastoma in a patient with Sotos' syndrome.

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19.

Schrander-Stumpel CT et al. (1990) Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21))

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20.

Bale AE et al. (1985) Familial Sotos syndrome (cerebral gigantism): craniofacial and psychological characteristics.

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21.

None (1988) The Prader-Willi syndrome and the Sotos syndrome: syndromes or sequences?

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22.

Goldstein DJ et al. (1988) Overgrowth, congenital hypotonia, nystagmus, strabismus, and mental retardation: variant of dominantly inherited Sotos sequence?

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23.

Kaneko H et al. (1987) Congenital heart defects in Sotos sequence.

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24.

Butler MG et al. (1985) Metacarpophalangeal pattern profile analysis in Sotos syndrome.

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25.

None (1985) Sotos syndrome--autosomal dominant inheritance substantiated.

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26.

Stephenson JN et al. (1968) Cerebral gigantism.

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27.

Hook EB et al. (1967) Cerebral gigantism: endocrinological and clinical observations of six patients including a congenital giant, concordant monozygotic twins, and a child who acheived adult gigantic size.

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28.

Bejar RL et al. (1970) Cerebral gigantism: concentrations of amino acids in plasma and muscle.

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29.

Hooft C et al. (1968) [Familial cerebral gigantism].

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30.

Maldonado V et al. (1984) Cerebral gigantism associated with Wilms' tumor.

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31.

Dodge PR et al. (1983) Cerebral gigantism.

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32.

None (1983) Cerebral gigantism, intestinal polyposis, and pigmentary spotting of the genitalia.

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33.

Smith A et al. (1981) Investigations in dominant Sotos syndrome.

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34.

None (1982) Male to male transmission of cerebral gigantism.

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35.

Ruvalcaba RH et al. (1980) Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia.

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36.

Boman H et al. (1980) Sotos syndrome in two brothers.

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37.

Cole TR et al. (1994) Sotos syndrome: a study of the diagnostic criteria and natural history.

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38.

Scarpa P et al. (1994) Familial Sotos syndrome: longitudinal study of two additional cases.

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39.

Maroun C et al. (1994) Child with Sotos phenotype and a 5:15 translocation.

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40.

Allanson JE et al. (1996) Sotos syndrome: evolution of facial phenotype subjective and objective assessment.

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41.

Schaefer GB et al. (1997) The neuroimaging findings in Sotos syndrome.

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42.

Smith M et al. (1997) No evidence for uniparental disomy as a common cause of Sotos syndrome.

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43.

Opitz JM et al. (1998) The syndromes of Sotos and Weaver: reports and review.

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44.

Noreau DR et al. (1998) Congenital heart defects in Sotos syndrome.

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45.

Brown WT et al. (1998) Identical twins discordant for Sotos syndrome.

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46.

Robertson SP et al. (1999) Sotos syndrome and cutis laxa.

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47.

Le Marec B et al. (1999) Gastric carcinoma in Sotos syndrome (cerebral gigantism).

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48.

Faivre L et al. (2000) Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism.

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49.

Leonard NJ et al. (2000) Sacrococcygeal teratoma in two cases of Sotos syndrome.

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50.

SOTOS JF et al. (1964) CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER.

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51.

Douglas J et al. (2005) Evaluation of NSD2 and NSD3 in overgrowth syndromes.

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52.

Kotilainen J et al. (2009) Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene.

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53.

Fryssira H et al. (2010) Two cases of Sotos syndrome with novel mutations of the NSD1 gene.

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54.

Kaminsky EB et al. (2011) An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

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55.

Hirai N et al. (2011) Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene.

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56.

OMIM.ORG article

Omim 117550 [^]
57.

Wikipedia article

Wikipedia EN (Sotos_syndrome) [^]
Update: April 29, 2019