Sotos syndrome (SOS)

2004-10-01   Kurotaki Naohiro  

Department of Molecular, Human Genetics, Baylor College of Medicine, One Baylor Plaza 604B (Lupski lab), Houston, Texas 77030, USA

Identity

Name

Sotos syndrome (SOS)

Alias

Cerebral gigantism

Inheritance

Generally sporadic, a few inherited cases. The familial case reported in 2003 was proved to have NSD1 mutation

Omim

117550 , 614753

Mesh

D058495

Orphanet

821 Sotos syndrome

Umls

C0175695

Clinics

Phenotype and clinics

  • Excessive growth, advanced bone age, typical facial gestalt,developmental delay.
  • In infancy growth is rapid, but settles down above the >97th centile in early childhood.
  • The adult height remains close to normal.
  • Large hands and feet
  • Characteristic facial gestalt: macrocephaly (>97th centile), frontal bossing, prognathism, hypertelorism, and antimongoloid slant of the palpebral fissures
  • Occasional hypotonia and delay in motor and language development
  • Cardiac, urogenital, musculoskeletal, and ophthalmologic anomalies are observed.

    • Neoplastic risk

    Relatively high. Neoplasms in SoS are found with a frequency of 2.2-3.9%

    Cytogenetics

    Inborn condition

    Routine chromosome analysis usually shows normal karyotype. Chromosomal abnormality concering 5q35 were reported. In addition, several chromosomal translocations other than 5q have been published.

    Genes involved and Proteins

    Alias

    Nuclear receptor binding SET domain protein 1

    Note

    Haploinsufficiency of NSD1 is a major cause of SoS.

    Note

    Frequencies of microdeletions involving NSD1 are quite different among different populations. In the Japanese population about a half of cases (49\/95) had microdeletions, whereas microdeletions are observed only in 9% of cases (9\/100) analyzed in European populations.

    Article Bibliography

    Pubmed IDLast YearTitleAuthors