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.

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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

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article

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Adila Al‐Kindi, Wejdan Hakami, Volker Haucke, Annarita Scardamaglia et al.
7 citations
Genetics in Medicine
Genetics and Neurodevelopmental Disorders
3.85
article

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Adila Al‐Kindi, Wejdan Hakami, Volker Haucke, Annarita Scardamaglia, Joseph G. Gleeson, Maha Saad Zaki, Stuart J Cannon, Almundher Al‐Maawali, Mina Zamani, Giovanni Zifarelli, Marwan Najjar, Hamid Galehdari, Nishanka Ubeyratna, Somaya Salah, Makram Obeid, Rose‐Mary Boustany, Faraz S. Ahmad, Barbara Vona, Saeid Sadeghian, Alireza Sedaghat, Amjad Khan, Homa Tajsharghi, Caroline F. Wright, Alihossein Saberi, Adam C. Gunning, Lydie Bürglen, Ehsan Ghayoor Karimiani, Pedro M. Rodríguez Cruz, Muhammad Imran Shabbir, Martina Owens, Reza Azizi Malamiri, Joseph S. Leslie, Lettie E. Rawlins, Henry Houlden, Nasar Khan, Ahmad Beydoun, Shahryar Alavi, Gholamreza Shariati, Peter Bauer, Amna Al‐Futaisi, Mathieu Milh, Emma L. Baple, Lucy McGavin, Reza Maroofian, Daniel Owrang, Ainara Salazar‐Villacorta, Muhammad Umair, Jahangir Khan, Michael Ebner, Robin Cloarec, Shujaat Ali Khan, Moustapha Ndiaye, Abdullah M Alhashem, Muhannad Daana, Orly Elpeleg, Amal Hashem, Amadou Gallo Diop, Hamid Khan, Mohammad Hamid, Shamsul Ghani, Andrew H Crosby
article en
7 citations

Abstract

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.

Genetics in MedicineVol. 27(2)
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)
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
Zero hunger
Openalex Percentile: Top 6%
Genetics and Neurodevelopmental Disorders
3.85
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