Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Sotos-Syndrom 1

Der zerebraler Gigantismus ist eine autosomal dominante Erkrankung die durch Mutationen im NSD1-Gen ausgelöst wird. Neben einem vermehrten Knochenwachstum sind intellektuelle Störungen charakteristisch.

Gliederung

Minderwuchs
Akro-capito-femorale Dysplasie
Brachydaktylie
Kleinwuchs, SHOX-bedingt
Sotos-Syndrom 1
NSD1
Syndromale Wachstumsstörung

Referenzen:

1.

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

[^]
2.

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

[^]
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.

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

Cole TR et. al. (1990) Sotos syndrome.

[^]
18.

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

[^]
19.

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

[^]
20.

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

[^]
21.

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

[^]
22.

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

[^]
23.

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

[^]
24.

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

[^]
25.

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

[^]
26.

Stephenson JN et. al. (1968) Cerebral gigantism.

[^]
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.

[^]
28.

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

[^]
29.

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

[^]
30.

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

[^]
31.

Dodge PR et. al. (1983) Cerebral gigantism.

[^]
32.

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

[^]
33.

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

[^]
34.

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

[^]
35.

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

[^]
36.

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

[^]
37.

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

[^]
38.

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

[^]
39.

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

[^]
40.

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

[^]
41.

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

[^]
42.

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

[^]
43.

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

[^]
44.

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

[^]
45.

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

[^]
46.

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

[^]
47.

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

[^]
48.

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

[^]
49.

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

[^]
50.

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

[^]
51.

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

[^]
52.

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

[^]
53.

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

[^]
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.

[^]
55.

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

[^]
Update: 26. September 2018

 

Die Seite verwendet Cookies, um Ihnen den bestmöglichen Service zu gewährleisten. Bitte bestätigen Sie uns kurz per Klick, dass Sie mit der Nutzung von Cookies einverstanden sind: