An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families-Reference-Cited by-同舟云学术

An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families

Published:2021-06-10 Issue:5 Volume:85 Page:186-195
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Koko Mahmoud¹,Yahia Ashraf²³⁴,Elsayed Liena E.²⁵,Hamed Ahlam A.⁶,Mohammed Inaam N.⁶,Elseed Maha A.⁶,Hamad Muddathir H. A.⁷,Babai Arwa M.⁸,Siddig Rayan A.⁸,Abd Allah Amal S. I.⁸,Mohamed Mayada⁹,EL‐Amin Melka⁸,Esteves Typhaine⁴¹⁰,Altmüller Janine¹¹,Toliat Mohammad Reza¹¹,Thiele Holger¹¹,Nürnberg Peter¹¹,Salih Mustafa A.⁷,Ahmed Ammar E.¹²,Lerche Holger¹,Stevanin Giovanni⁴¹⁰

Affiliation:

1. Department of Neurology and Epileptology Hertie Institute for Clinical Brain Research University of Tubingen Tubingen Germany

2. Department of Biochemistry Faculty of Medicine University of Khartoum Khartoum Sudan

3. Department of Biochemistry Faculty of Medicine National University Khartoum Sudan

4. Institut du Cerveau, INSERM U1127, CNRS UMR7225 Sorbonne Université Paris France

5. College of Medicine Princess Nourah bint Abdulrahman University Riyadh Saudi Arabia

6. Department of Pediatrics Faculty of Medicine University of Khartoum Khartoum Sudan

7. Division of Pediatric Neurology Department of Pediatrics College of Medicine King Saud University Riyadh Saudi Arabia

8. Institute of Endemic Diseases University of Khartoum Khartoum Sudan

9. Council of Diagnostic Radiology Sudan Medical Specialization Board Khartoum Sudan

10. Ecole Pratique des Hautes Etudes, EPHE PSL Research University Paris France

11. Cologne Center for Genomics University of Cologne Cologne Germany

12. Department of Physiology, Faculty of Medicine University of Khartoum Khartoum Sudan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12437

Reference30 articles.

1. PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

2. Splicing mutations in human genetic disorders: examples, detection, and confirmation

3. Reply: PRUNE1: A disease‐causing gene for secondary microcephaly;Baple E. L.;Brain,2017

4. PEHO syndrome: the endpoint of different genetic epilepsies

5. Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype

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5. Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors;Frontiers in Oncology;2021-10-22