Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder
Our studies comprehensively characterize INPP4A-related neurodevelopmental disorder and suggest genotype-specific clinical assessment guidelines. We propose that the potential mechanistic basis of observed genotype-phenotype correlations entails exon 4 translation reinitiation.
Authors
- Adila Al‐Kindi
- Wejdan Hakami
- Volker Haucke (ORCID: https://orcid.org/0000-0003-3119-6993)
- Annarita Scardamaglia (ORCID: https://orcid.org/0009-0007-6013-4819)
- Joseph G. Gleeson (ORCID: https://orcid.org/0000-0002-0889-9220)
- Maha Saad Zaki (ORCID: https://orcid.org/0000-0001-7840-0002)
- Stuart J Cannon (ORCID: https://orcid.org/0000-0002-5108-7615)
- Almundher Al‐Maawali (ORCID: https://orcid.org/0000-0002-1404-8887)
- Mina Zamani (ORCID: https://orcid.org/0000-0002-7005-3787)
- Giovanni Zifarelli (ORCID: https://orcid.org/0000-0001-5567-8300)
- Marwan Najjar (ORCID: https://orcid.org/0000-0001-8100-4676)
- Hamid Galehdari (ORCID: https://orcid.org/0000-0001-6281-4809)
- Nishanka Ubeyratna
- Somaya Salah
- Makram Obeid
- Rose‐Mary Boustany (ORCID: https://orcid.org/0000-0002-2066-0079)
- Faraz S. Ahmad (ORCID: https://orcid.org/0000-0002-2613-2541)
- Barbara Vona (ORCID: https://orcid.org/0000-0002-6719-3447)
- Saeid Sadeghian (ORCID: https://orcid.org/0000-0002-7935-3401)
- Alireza Sedaghat (ORCID: https://orcid.org/0009-0006-1495-2389)
- Amjad Khan (ORCID: https://orcid.org/0000-0002-4149-9544)
- Homa Tajsharghi (ORCID: https://orcid.org/0000-0001-8854-5213)
- Caroline F. Wright (ORCID: https://orcid.org/0000-0003-2958-5076)
- Alihossein Saberi (ORCID: https://orcid.org/0000-0003-4360-9118)
- Adam C. Gunning (ORCID: https://orcid.org/0000-0002-5800-0252)
- Lydie Bürglen (ORCID: https://orcid.org/0000-0002-1119-6809)
- Ehsan Ghayoor Karimiani (ORCID: https://orcid.org/0000-0003-3858-7073)
- Pedro M. Rodríguez Cruz (ORCID: https://orcid.org/0000-0001-5416-8341)
- Muhammad Imran Shabbir (ORCID: https://orcid.org/0000-0003-4394-1217)
- Martina Owens (ORCID: https://orcid.org/0000-0002-2081-0188)
- Reza Azizi Malamiri (ORCID: https://orcid.org/0000-0001-5423-6375)
- Joseph S. Leslie (ORCID: https://orcid.org/0000-0003-0972-8818)
- Lettie E. Rawlins (ORCID: https://orcid.org/0000-0002-6764-253X)
- Henry Houlden (ORCID: https://orcid.org/0000-0002-2866-7777)
- Nasar Khan (ORCID: https://orcid.org/0000-0002-9196-9321)
- Ahmad Beydoun (ORCID: https://orcid.org/0000-0002-9047-1185)
- Shahryar Alavi (ORCID: https://orcid.org/0000-0002-3484-3423)
- Gholamreza Shariati (ORCID: https://orcid.org/0000-0002-6295-127X)
- Peter Bauer (ORCID: https://orcid.org/0000-0001-9414-4555)
- Amna Al‐Futaisi (ORCID: https://orcid.org/0000-0002-8035-0849)
- Mathieu Milh (ORCID: https://orcid.org/0000-0002-2454-8543)
- Emma L. Baple (ORCID: https://orcid.org/0000-0002-6637-3411)
- Lucy McGavin (ORCID: https://orcid.org/0000-0002-7784-7651)
- Reza Maroofian
- Daniel Owrang
- Ainara Salazar‐Villacorta (ORCID: https://orcid.org/0000-0002-5753-2687)
- Muhammad Umair (ORCID: https://orcid.org/0000-0001-6729-9746)
- Jahangir Khan (ORCID: https://orcid.org/0000-0002-3065-8116)
- Michael Ebner (ORCID: https://orcid.org/0000-0003-4234-7187)
- Robin Cloarec
- Shujaat Ali Khan (ORCID: https://orcid.org/0000-0002-9050-0767)
- Moustapha Ndiaye (ORCID: https://orcid.org/0009-0005-8400-4213)
- Abdullah M Alhashem
- Muhannad Daana
- Orly Elpeleg
- Amal Hashem
- Amadou Gallo Diop
- Hamid Khan
- Mohammad Hamid
- Shamsul Ghani
- Andrew H Crosby
Institutions
- Ahvaz Jundishapur University of Medical Sciences (IR)
- International Islamic University, Islamabad (PK)
- Pasteur Institute of Iran (IR)
- Children’s Institute (US)
- Riyadh Armed Forces Hospital (SA)
- Inserm (FR)
- St George's, University of London (GB)
- Queen Mary University of London (GB)
- King Saud bin Abdulaziz University for Health Sciences (SA)
- Shahid Chamran University of Ahvaz (IR)
- Aarhus University (DK)
- University of Skövde (SE)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Hadassah Medical Center (IL)
- Royal Devon and Exeter Hospital (GB)
- Sorbonne Université (FR)
- Hôpital Armand-Trousseau (FR)
- Biotechnology Research Center (IR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Leibniz-Forschungsinstitut für Molekulare Pharmakologie (DE)
- European Neuroscience Institute Göttingen (DE)
- National Research Centre (EG)
- Centogene (Germany) (DE)
- Centre Hospitalier National Universitaire de Fann (SN)
- Sultan Qaboos University Hospital (OM)
- Exeter Hospital (US)
- Exeter Hospital (GB)
- Hôpital de la Timone (FR)
- University Hospitals Plymouth NHS Trust (GB)
- University College London (GB)
- Sultan Qaboos University (OM)
- Clalit Health Services (IL)
- University of Göttingen (DE)
- University of Tübingen (DE)
- American University of Beirut (LB)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2024-09-21
- DOI
- https://doi.org/10.1016/j.gim.2024.101278
- Citations
- 7
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.85
Funders
- Wellcome Trust
- Newlife the Charity for Disabled Children
- Academy of Medical Sciences
- Deutsche Forschungsgemeinschaft
- King Abdullah International Medical Research Center
- Seventh Framework Programme
- Medical Research Council