RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

Author:

Scala Marcello123ORCID,Mojarrad Majid456,Riazuddin Saima7,Brigatti Karlla W8,Ammous Zineb9,Cohen Julie S10,Hosny Heba11,Usmani Muhammad A7,Shahzad Mohsin12ORCID,Riazuddin Sheikh1213ORCID,Stanley Valentina14,Eslahi Atiye415,Person Richard E16,Elbendary Hasnaa M17,Comi Anne M10,Poskitt Laura8ORCID,Salpietro Vincenzo123,Genomics Queen Square1,Rosenfeld Jill A18,Williams Katie B19,Marafi Dana18ORCID,Xia Fan18,Biderman Waberski Marta20,Zaki Maha S17,Gleeson Joseph14,Puffenberger Erik8,Houlden Henry1ORCID,Maroofian Reza1

Affiliation:

1. UCL Queen Square Institute of Neurology, University College London, London, UK

2. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy

3. Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy

4. Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

5. Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran

6. Genetic Center of Khorasan Razavi, Mashhad, Iran

7. Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA

8. Clinic for Special Children, Strasburg, PA, USA

9. Community Health Clinic, Topeka, IN, USA

10. Departments of Neurology and Pediatrics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA

11. National Institute of Neuromotor System, Cairo, Egypt

12. Center for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad, Pakistan

13. National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 53700, Pakistan

14. Department of Neuroscience, Rady Children’s Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA, USA

15. Medical Genetics Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

16. GeneDx, Gaithersburg, Maryland, USA

17. Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt

18. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

19. Department of Pediatrics, University of Wisconsin Hospitals and Clinics, Madison, WI, USA

20. Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA

Funder

University of Maryland

National Institute of Neurological Disorders and Stroke

NINDS

Medical Research Council

MRC

The National Institute for Health Research University College London Hospitals Biomedical Research Centre

Multiple System Atrophy Trust

Brain Research UK

Sparks Great Ormond Street Hospital Charity, Muscular Dystrophy

Muscular Dystrophy Association

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

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