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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Mutations in SETD2 cause a novel overgrowth condition.

Armelle Luscan¹, Ingrid Laurendeau¹, Valérie Malan²

¹EA7331, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France Service de Biochimie et de Génétique Moléculaire, Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, Paris, France.

Journal of Medical Genetics

|May 24, 2014

Summary

This summary is machine-generated.

Genetic analysis revealed mutations in the SETD2 gene, an epigenetic writer, causing Sotos-like overgrowth conditions. This highlights the role of H3K36 histone methylation in these rare developmental disorders.

Keywords:

Clinical genetics Developmental Molecular genetics

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Area of Science:

Genetics
Epigenetics
Developmental Biology

Background:

Overgrowth conditions encompass disorders with increased growth and variable features like macrocephaly and intellectual disability.
Sotos syndrome (NSD1 mutations) and Weaver syndrome (EZH2 mutations) are well-defined overgrowth disorders involving histone-modifying enzymes.
Histone modifications, specifically H3K36 and H3K27 methylation, are crucial in regulating gene expression and development.

Purpose of the Study:

To investigate the role of histone-modifying enzymes in patients with Sotos or Sotos-like syndromes lacking NSD1 or EZH2 mutations.
To identify novel genetic causes for overgrowth conditions by examining genes involved in H3K36 and H3K27 methylation.
To explore the link between epigenetic dysregulation and developmental disorders.

Main Methods:

Targeted next-generation sequencing was employed to analyze coding sequences of 22 genes related to H3K27 and H3K36 methylation.
The study included patients diagnosed with Sotos syndrome, Sotos-like syndrome, and Weaver syndrome.
Genetic variants were identified and correlated with clinical phenotypes.

Main Results:

Two patients with Sotos-like syndrome were found to have heterozygous mutations in the SETD2 gene.
SETD2, responsible for H3K36 trimethylation, showed loss-of-function mutations (one missense, one nonsense).
Clinical features in affected individuals included postnatal overgrowth, macrocephaly, obesity, speech delay, and advanced carpal ossification.

Conclusions:

The findings support SETD2 as a causative gene for Sotos-like syndrome.
This study underscores the significance of targeted next-generation sequencing in diagnosing rare genetic disorders.
Sotos and Sotos-like syndromes are presented as epigenetic diseases resulting from impaired H3K36 histone mark regulation.