Overgrowth-intellectual disability disorders: progress in biology, patient advocacy and innovative therapies

Cooper Atterton; Isabella Trew; Jessica M Cale; May T Aung-Htut; Kerry Grens; Jill Kiernan; Christal G Delagrammatikas; Michael Piper

doi:10.1242/dmm.052300

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Overgrowth-intellectual disability disorders: progress in biology, patient advocacy and innovative therapies

Journal article

Open access

Peer reviewed

Overgrowth-intellectual disability disorders: progress in biology, patient advocacy and innovative therapies

Cooper Atterton, Isabella Trew, Jessica M Cale, May T Aung-Htut, Kerry Grens, Jill Kiernan, Christal G Delagrammatikas and Michael Piper

Disease models & mechanisms, Vol.18(5)

2025

DOI: https://doi.org/10.1242/dmm.052300

PMID: 40353642

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Abstract

Animals

Humans

Intellectual Disability - genetics

Intellectual Disability - pathology

Intellectual Disability - therapy

Patient Advocacy

Therapies, Investigational

Overgrowth-intellectual disability (OGID) syndromes encompass a group of rare neurodevelopmental disorders that frequently share common clinical presentations. Although the genetic causes of many OGID syndromes are now known, we lack a clear mechanistic understanding of how such variants disrupt developmental processes and ultimately culminate in overgrowth and neurological symptoms. Patient advocacy groups, such as the Overgrowth Syndromes Alliance (OSA), are mobilising patients, families, clinicians and researchers to work together towards a deeper understanding of the clinical needs of patients with OGID, as well as to understand the fundamental biology of the relevant genes, with the goal of developing treatments. In this Review, we summarise three OGID syndromes encompassed by the OSA, namely Sotos syndrome, Malan syndrome and Tatton-Brown-Rahman syndrome. We discuss similarities and differences in the biology behind each disorder and explore future approaches that could potentially provide a way to ameliorate some of the unmet clinical needs of patients with OGID.

Details

Title: Overgrowth-intellectual disability disorders: progress in biology, patient advocacy and innovative therapies
Authors/Creators: Cooper Atterton - The University of Queensland
Isabella Trew - Avenir Health
Jessica M Cale - Avenir Health
May T Aung-Htut - Murdoch University, Personalised Medicine Centre
Kerry Grens - TBRS Community, Stanfordville, NY 12581, USA
Jill Kiernan - TBRS Community, Stanfordville, NY 12581, USA
Christal G Delagrammatikas - Rome Foundation
Michael Piper - The University of Queensland
Publication Details: Disease models & mechanisms, Vol.18(5)
Publisher: The Company of Biologists; CAMBRIDGE
Number of pages: 13
Grant note: Simons Foundation Autism Research Initiative Australian Government
Identifiers: 991005779519107891
Murdoch Affiliation: Personalised Medicine Centre
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.186 Chromosome Disorders; 1.186.1533 Genomic Imprinting
Web Of Science research areas: Cell Biology; Medicine, Research & Experimental; Pathology
ESI research areas: Biology & Biochemistry