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Sotos syndrome


Gene Reviews

One in a group of disorders resulting in overgrowth, Sotos syndrome is characterized by an unusually large size at birth,learning disabilities, and increased height and head circumference. It is associated with neonatal jaundice, scoliosis, seizures, conductive hearing loss, congenital cardiac anomalies, renal anomalies, and behavioral problems. There is an increased risk of cancer with this and other overgrowth syndromes.

Mutations in the NSD1 gene cause Sotos syndrome. The NSD1 gene provides instructions for making a protein that is involved in normal growth and development. The function of this protein is unknown, however. In the Japanese population, the most common genetic change leading to Sotos syndrome deletes genetic material from the region of chromosome 5 containing the NSD1 gene. In other populations, small mutations within the NSD1 gene occur more frequently. Genetic changes involving the NSD1 gene prevent one copy of the gene from producing any functional protein which leads to features of Sotos syndrome. NSD1 is the only known gene to be associated with Sotos syndrome. About 80-90% of individuals with Sotos syndrome have a mutation or deletion of NSD1.

Sequencing is the first tier test for this disorder. If no mutation is found we recommend FISH as the second tier test.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-10 Code Q87.3

Test Requisition: Sequencing Requisition

CPT Codes: 81406 Cost: $1500.00

Turn-around-time: 5-6 weeks

Specimen Requirements

Shipping Information


1. Ball LJ, Sullivan MD, Dulany S, Stading K, Schaefer GB (2005). “Speech-language characteristics of children with Sotos syndrome”. Am J Med Genet A.136A(4):363-7.

2. Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicuel C, Colleaux L, Cormier-Daire V (2006). “Clinical and molecular overlap in overgrowth syndromes”. Am J Med Genet C Semin Med Genet. 142(1):59.

3. Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F (2005) “Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth”. Am J Med Genet A.134(3):247-53.

4. Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N (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”. Am J Hum Genet. 72(1):132-43.

5. Faravelli F (2005). “NSD1 mutations in Sotos syndrome”. Am J Med Genet C Semin Med Genet. 137C(1):24-31. Review.

Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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