Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
We describe the largest cohort of TAOK1-NDD to date, to our knowledge, expanding its phenotype and genotype spectrum with 30 novel variants. We delineated the phenotype of a novel TAOK2-NDD associated with neurodevelopmental abnormalities, autism, macrocephaly, and obesity.
Authors
- Emilia K. Bijlsma (ORCID: https://orcid.org/0000-0002-2443-3906)
- Sureni V. Mullegama (ORCID: https://orcid.org/0000-0002-0673-7084)
- Sarju Mehta (ORCID: https://orcid.org/0000-0003-0446-3435)
- Alvaro H. Serrano Russi
- Trine Bjørg Hammer (ORCID: https://orcid.org/0000-0001-8935-5761)
- Christina Fagerberg (ORCID: https://orcid.org/0000-0002-5206-4327)
- Kathryn Oprych
- Jorge Saraiva (ORCID: https://orcid.org/0000-0002-7232-3509)
- Karin Writzl (ORCID: https://orcid.org/0000-0003-0388-5361)
- Agustí Rodríguez‐Palmero (ORCID: https://orcid.org/0000-0002-4141-5515)
- Pradeep Vasudevan (ORCID: https://orcid.org/0009-0002-6095-2030)
- Lynne M. Bird (ORCID: https://orcid.org/0000-0003-4833-3747)
- Franziska Schnabel (ORCID: https://orcid.org/0000-0002-9966-8937)
- Flavia Palermo
- H. Faust (ORCID: https://orcid.org/0009-0005-2853-341X)
- Belinda Campos‐Xavier (ORCID: https://orcid.org/0000-0002-6271-0724)
- Meena Balasubramanian (ORCID: https://orcid.org/0000-0003-1488-3695)
- Rebecca J. Levy (ORCID: https://orcid.org/0000-0003-0393-6835)
- Bonnie Anne Salbert
- Patricia G. Wheeler (ORCID: https://orcid.org/0000-0002-0156-2449)
- Eva H. Brilstra (ORCID: https://orcid.org/0000-0001-5793-9623)
- Ingrid Scurr
- Ulla A. Andersen
- Michael Parker (ORCID: https://orcid.org/0000-0003-4739-5217)
- Nour M. Elkhateeb (ORCID: https://orcid.org/0000-0002-3076-3178)
- Tahsin Stefan Barakat (ORCID: https://orcid.org/0000-0003-1231-1562)
- Isis Atallah (ORCID: https://orcid.org/0000-0002-0618-1549)
- Henriette Kiep
- Lusine Nazaryan‐Petersen (ORCID: https://orcid.org/0000-0002-4807-6827)
- Nicole Matthews
- Soo‐Mi Park (ORCID: https://orcid.org/0000-0002-0538-4547)
- Lauren Bell (ORCID: https://orcid.org/0000-0002-5408-8525)
- Jennifer L. Morrison
- Jessica A. Radley (ORCID: https://orcid.org/0000-0002-0776-0091)
- Martina Wilke (ORCID: https://orcid.org/0000-0002-8115-8517)
- Kimberly Wiltrout (ORCID: https://orcid.org/0000-0001-8123-4092)
- Tomoki Nomakuchi (ORCID: https://orcid.org/0000-0001-7300-9311)
- Angela Morgan
- Konrad Platzer
- Bertrand Isidor (ORCID: https://orcid.org/0000-0001-6480-126X)
- Lewis Pang
- Rebecca S. Belles
- Karen Jaqueline Low (ORCID: https://orcid.org/0000-0002-4975-9363)
- Alfredo Brusco (ORCID: https://orcid.org/0000-0002-8318-7231)
- Renarta Crookes
- Janna Kenny (ORCID: https://orcid.org/0000-0002-2271-1941)
- Tanja Višnjar
- G. Bradley Schaefer (ORCID: https://orcid.org/0000-0002-1236-0017)
- Michael Spiller (ORCID: https://orcid.org/0000-0003-1741-3728)
- David J. Amor (ORCID: https://orcid.org/0000-0001-7191-8511)
- David Hunt
- Sally Ann Lynch (ORCID: https://orcid.org/0000-0003-3540-1333)
- Rebecca C. Ahrens‐Nicklas (ORCID: https://orcid.org/0000-0001-8243-7123)
- Lisa Pavinato (ORCID: https://orcid.org/0000-0002-7630-8365)
- Theresia Herget (ORCID: https://orcid.org/0009-0005-5035-9534)
- Elizabeth Bhoj (ORCID: https://orcid.org/0000-0001-5748-3507)
- Andrew Green (ORCID: https://orcid.org/0000-0002-1077-7417)
- Sarah Green (ORCID: https://orcid.org/0000-0002-8094-433X)
- Sahar Mansour (ORCID: https://orcid.org/0000-0001-8357-1287)
- Dong Li
- Andrea Ros (ORCID: https://orcid.org/0009-0008-6260-5757)
- Charlotte Brasch Andersen
- Benjamin Cogné (ORCID: https://orcid.org/0000-0002-5503-6292)
- A. Mendes
- Diana Johnson
- Fanny Kortüm
- Shauna Quin
- TaraChandra Narumanch
- Kristina Peron
- Jillian Uhlman
Institutions
- East Tennessee State University (US)
- West Virginia University (US)
- Leiden University (NL)
- University of Copenhagen (DK)
- Boston Children's Hospital (US)
- Centre National de la Recherche Scientifique (FR)
- Lucile Packard Children's Hospital (US)
- Children's Hospital of Philadelphia (US)
- University of Ljubljana (SI)
- Inserm (FR)
- Universität Hamburg (DE)
- Illinois College (US)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- London North West Healthcare NHS Trust (GB)
- Arnold Palmer Hospital for Children (US)
- University Hospitals Bristol NHS Foundation Trust (GB)
- St George’s University Hospitals NHS Foundation Trust (GB)
- Ljubljana University Medical Centre (SI)
- Odense University Hospital (DK)
- Princess Anne Hospital (GB)
- Erasmus MC (NL)
- Hospitais da Universidade de Coimbra (PT)
- University Hospitals of Leicester NHS Trust (GB)
- Cambridge University Hospitals NHS Foundation Trust (GB)
- Copenhagen University Hospital (DK)
- West Virginia University Hospitals (US)
- Children's Health Ireland at Crumlin (IE)
- University Medical Center Utrecht (NL)
- University of Illinois Chicago (US)
- Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT)
- Rady Children's Hospital-San Diego (US)
- University Medical Center Hamburg-Eppendorf (DE)
- Department of Medical Sciences (RU)
- Sheffield Children's NHS Foundation Trust (GB)
- University Hospital Leipzig (DE)
- Lillebaelt Hospital (DK)
- Epilepsy Action (GB)
- Institut du Thorax (FR)
- Murdoch Children's Research Institute (AU)
- Hospital Universitari Germans Trias i Pujol (ES)
- University Hospitals Bristol and Weston NHS Foundation Trust (GB)
- Geisinger Health System (US)
- University of Turin (IT)
- Università della Svizzera italiana (CH)
- University of Coimbra (PT)
- University of Arkansas for Medical Sciences (US)
- University of Sheffield (GB)
- Nantes Université (FR)
- University of Lausanne (CH)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2024-12-27
- DOI
- https://doi.org/10.1016/j.gim.2024.101348
- Citations
- 6
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.30
Funders
- University of Arkansas for Medical Sciences
- West Virginia University
- Wellcome Trust
- University Hospitals of Leicester NHS Trust
- Chan Zuckerberg Initiative
- University of Bristol
- ZonMw
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek
- Ministero dell’Istruzione, dell’Università e della Ricerca
- Univerza v Ljubljani
- University of Illinois at Urbana-Champaign
- Medical Research Council
- Universitätsklinikum Hamburg-Eppendorf