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Related Experiment Video

Updated: May 6, 2026

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

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Published on: August 20, 2019

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Anna Lindstrand¹, Giedre Grigelioniene, Daniel Nilsson

¹Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

Journal of Medical Genetics

|November 9, 2013

Summary

Mutations in the PDE4D gene cause acrodysostosis and a new intellectual disability syndrome. PDE4D gene dose imbalances lead to distinct phenotypes, highlighting the gene's crucial role in development.

Keywords:

Clinical Genetics Copy-Number Developmental Other Endocrinology Other Neurology

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Area of Science:

Genetics
Molecular Biology
Developmental Biology

Background:

Point mutations in the phosphodiesterase 4D (PDE4D) gene are associated with acrodysostosis, a disorder characterized by skeletal dysplasia and intellectual disability.
Investigating the clinical and cellular effects of various PDE4D mutations is crucial for understanding related genetic disorders.

Purpose of the Study:

To investigate the clinical and cellular implications of different types of mutations in the PDE4D gene.
To differentiate the phenotypic effects of PDE4D point mutations versus gene dose imbalances.

Main Methods:

Clinical evaluation and whole exome sequencing of five acrodysostosis patients and three patients with PDE4D gene dose imbalances.
Sanger sequencing, array comparative hybridization, and zebrafish model studies (overexpression and morpholino knockdown) to assess mutation pathogenicity.

Main Results:

Identified three novel and two known PDE4D point mutations in acrodysostosis patients.
Discovered two deletions and one duplication involving PDE4D in patients with an intellectual disability syndrome exhibiting distinct physical features.
Observed a mirror phenotype between patients with missense PDE4D mutations and those with gene dose imbalances, validated by zebrafish studies.

Conclusions:

Haploinsufficiency of PDE4D causes a novel intellectual disability syndrome (5q12.1-haploinsufficiency syndrome) with features opposing acrodysostosis.
PDE4D mutations expand the spectrum of acrodysostosis and can lead to significant hormone resistance and endocrine abnormalities.