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Article

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single-Center Experience.

American journal of medical genetics. Part A - 1 Nov 2025

Viswanathan Aravind, George Andrew M, Hathaway Evan R, Glatts Carlyn, Kalish Jennifer M

Abstract excerpt

Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder, anxiety, and increased rates of tantrums and aggressive behavior. Here,...

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Source

Identifiers

PMID: 40558479
DOI: 10.1002/ajmg.a.64129

Genes

NSD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single-Center Experience.PMID 40558479Read ↗

Sotos syndrome.Semantic proximity Read ↗

A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description.Semantic proximity Read ↗

Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.Semantic proximity Read ↗

A clinical study of Sotos syndrome patients with review of the literature.Semantic proximity Read ↗

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.Semantic proximity Read ↗

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.Semantic proximity Read ↗

[Clinical phenotypes and a genetic analysis of patients with Sotos syndrome].Semantic proximity Read ↗

Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.Semantic proximity Read ↗

NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.Semantic proximity Read ↗

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.Semantic proximity Read ↗

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.Semantic proximity Read ↗

Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome.Semantic proximity Read ↗

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