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

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Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.

Thomas Smol^1,2, Caroline Thuillier¹, Elise Boudry-Labis¹

¹EA7364 - RADEME, Université de Lille, F-59000, Lille, France.

|December 12, 2019

Summary

14q11.2 microduplications involving CHD8 and SUPT16 genes can cause developmental issues, but severity varies. One patient in this study had normal intelligence, expanding the known phenotype for this rare genetic condition.

Keywords:

Autism spectrum disorder Behaviour problems CHD8-SUPT16H duplication syndrome Cerebellar vermian anomaly

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Area of Science:

Genetics
Developmental Biology
Clinical Medicine

Background:

Microdeletions at the 14q11.2 locus, including SUPT16H and CHD8, are associated with developmental delay, intellectual disability, autism spectrum disorders, and macrocephaly.
Variations causing CHD8 haploinsufficiency or loss of function result in similar phenotypes, emphasizing CHD8's critical role in development.
A recently described 14q11.2 microduplication syndrome involving CHD8 and SUPT16H highlights the importance of precise gene dosage for normal development.

Purpose of the Study:

To report two new cases of 14q11.2 microduplication syndrome encompassing CHD8 and SUPT16H.
To further delineate the phenotypic spectrum and clinical relevance of 14q11.2 microduplications.
To analyze non-recurrent breakpoints and their impact on interpreting copy number variations (CNVs).

Main Methods:

Clinical case reporting of two patients with 14q11.2 microduplication.
Review and analysis of previously reported cases with similar microduplications.
Comparative genomic hybridization or chromosomal microarray analysis to identify CNVs.

Main Results:

Two patients with 14q11.2 microduplication involving CHD8 and SUPT16H were identified.
One patient presented with normal intelligence, broadening the known neurodevelopmental outcomes.
Review of existing literature allowed for a more precise definition of the condition and expanded the phenotypic spectrum.

Conclusions:

14q11.2 microduplication syndrome involving CHD8 and SUPT16H is a condition with variable neurodevelopmental outcomes, including normal intelligence in some cases.
Precise gene dosage of CHD8 is crucial for normal neurodevelopment.
Further research is needed to understand the full spectrum and underlying mechanisms of 14q11.2 microduplications and their impact on neurodevelopment.