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KANSL1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

KANSL1 gene

The KANSL1 gene is essential for regulating gene activity, and its loss is the primary cause of Koolen-de Vries syndrome.

Normal Function

The KANSL1 gene provides instructions for making a subunit of the KAT8 regulatory NSL complex. This complex is a histone acetyltransferase (HAT) complex that helps regulate gene activity by modifying chromatin, the combination of DNA and proteins that packages DNA into chromosomes. The protein produced by KANSL1 is found in most organs and tissues throughout life and plays an important role in the development and function of many parts of the body.

Health Conditions Related to Genetic Changes

Koolen-de Vries syndrome

Mutations in the KANSL1 gene or deletions of genetic material containing this gene cause Koolen-de Vries syndrome. This disorder is characterized by:

  • Developmental delay
  • Intellectual disability
  • A cheerful and sociable disposition
  • A variety of physical abnormalities

The loss of one functional copy of the KANSL1 gene in each cell impairs the normal development and function of various organs and tissues, though the exact relationship between the loss of this gene and the specific symptoms of the syndrome remains under study.

Frequently Asked Questions

Diagnosis combines clinical assessment (developmental delay, characteristic facial features, etc.) with molecular testing. The gold‑standard test is chromosomal microarray or exome sequencing that detects a heterozygous deletion or pathogenic variant affecting KANSL1. In many cases, a 17q21.31 microdeletion encompassing KANSL1 is identified.
Yes. Children with KANSL1 deletions can develop feeding difficulties, constipation, and, less commonly, cardiac or renal anomalies. Routine pediatric follow‑up should include growth measurements, cardiac evaluation (echocardiogram if indicated), renal function labs, and monitoring for sleep‑related breathing disorders. Early detection allows timely intervention.
Koolen‑de Vries syndrome is usually caused by a de novo (new) deletion, meaning the parents typically do not carry it. The recurrence risk for siblings is low (<1 %). However, the affected individual has a 50 % chance of transmitting the same deletion to each of their children, so reproductive counseling is important.
Early, intensive therapies are key. Speech and language therapy, occupational therapy focusing on fine‑motor skills, and physical therapy for gross‑motor milestones should start as soon as the diagnosis is made. Educational support with individualized education plans (IEPs) and, when needed, behavioral therapy can further enhance learning and social integration.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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