Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

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

external link
2.

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

external link
3.

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

external link
4.

Dodge PR et al. (1983) Cerebral gigantism.

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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.

external link
28.

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

external link
29.

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.

external link
30.

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

external link
31.

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.

external link
32.

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

external link
33.

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

external link
34.

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

external link
35.

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

external link
36.

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

external link
37.

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

external link
38.

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

external link
39.

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

external link
40.

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

external link
41.

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

external link
42.

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

external link
43.

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

external link
44.

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

external link
45.

Cole TR et al. (1990) Sotos syndrome.

external link
46.

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

external link
47.

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

external link
48.

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

external link
49.

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

external link
50.

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

external link
51.

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

external link
52.

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

external link
53.

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

external link
54.

Stephenson JN et al. (1968) Cerebral gigantism.

external link
55.

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

external link
56.

OMIM.ORG article

Omim 117550 external link
57.

Wikipedia article

Wikipedia EN (Sotos_syndrome) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits