Phenotypic Continuum of Nfu1-Related Disorders

Phenotypic Continuum of Nfu1-Related Disorders Publisher Pubmed

Kaiyrzhanov R¹ ; Zaki MS² ; Lau T¹ ; Sen S³ ; Azizimalamiri R⁴ ; Zamani M⁵ ; Sayin GY⁶ ; Hilander T⁷ ; Efthymiou S¹ ; Chelban V¹ ; Brown R⁸ ; Thompson K⁹ ; Scarano MI¹⁰ ; Ganesh J¹¹ Show All Authors

Kaiyrzhanov R¹
Zaki MS²
Lau T¹
Sen S³
Azizimalamiri R⁴
Zamani M⁵
Sayin GY⁶
Hilander T⁷
Efthymiou S¹
Chelban V¹
Brown R⁸
Thompson K⁹
Scarano MI¹⁰
Ganesh J¹¹
Koneev K¹²
Gulacar IM^{6, 13}
Person R¹⁴
Sadykova D¹⁵
Maidyrov Y¹²
Seifi T⁵
Zadagali A¹⁶
Bernard G^{17, 18, 19}
Allis K¹⁴
Elloumi HZ¹⁴
Lindy A¹⁴
Taghiabadi E²⁰
Verma S²¹
Logan R²²
Kirmse B²³
Bai R¹⁴
Khalaf SM²⁴
Abdelhamid MS²⁵
Sedaghat A²⁶
Shariati G^{27, 28}
Issa M²
Zeighami J²⁸
Elbendary HM²
Brown G⁸
Taylor RW^{9, 29}
Galehdari H⁵
Gleeson JJ^{30, 31}
Carroll CJ⁷
Cowan JA³
Morenodeluca A³²
Houlden H¹
Maroofian R¹

Show Affiliations

1. Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom
2. Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt
3. Department of Chemistry and Biochemistry, The Ohio State University, 100 West 18th Avenue, Columbus, 43210, OH, United States
4. Department of Paediatric Neurology, Golestan, Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
5. Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran
6. Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, 34098, Turkey
7. Genetics Section, Molecular and Clinical Sciences, St George's, University of London, London, United Kingdom
8. Oxford Medical Genetics Laboratories, The Churchill Hospital, Oxford, OX3 7LJ, United Kingdom
9. Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, NE2 4HH, United Kingdom
10. Division of Genetics, Cooper Health System, Children's Regional Hospital, Sheridan Pavilion Camden, 08103, New Jersy, United States
11. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States
12. Department of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, 050000, Kazakhstan
13. Department of Genetics, Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, 34098, Turkey
14. GeneDx, Gaithersburg, 20877, MD, United States
15. Astana Medical University, Nur-Sultan, Kazakhstan
16. L.N. Gumilyov Eurasian National University, Nur-Sultan, Kazakhstan
17. Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada
18. Division of Medical Genetics, Department Specialized Medicine, McGill University Health Centre, Montreal, Canada
19. Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada
20. Skin and Stem Cell Research Center, Tehran University of Medical Sciences, Tehran, Iran
21. Department of Neurology, Emory University School of Medicine, Atlanta, GA, United States
22. Division of Neurosciences, Children's Healthcare of Atlanta, Atlanta, GA, United States
23. Division of Genetics, University of Mississippi Medical Center, Jackson, MS, United States
24. Pediatrics Department, Assiut University, Assiut, Egypt
25. Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt
26. Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
27. Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
28. Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran
29. NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, United Kingdom
30. Department of Neurosciences, University of California, San Diego, La Jolla, 92093, CA, United States
31. Rady Children's Institute for Genomic Medicine, San Diego, 92025, CA, United States
32. Department of Radiology, Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, 17822, PA, United States

Source: Annals of Clinical and Translational Neurology Published:2022

Abstract

Bi-allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early-onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra-rare bi-allelic NFU1 missense variants associated with a spectrum of early-onset pure to complex hereditary spastic paraplegia (HSP) phenotype with a longer survival (16/19) on one end and neurodevelopmental delay with severe hypotonia (3/19) on the other. Reversible or irreversible neurological decompensation after a febrile illness was common in the cohort, and there were invariable white matter abnormalities on neuroimaging. The study suggests that MMDS1 and HSP could be the two ends of the NFU1-related phenotypic continuum. © 2022 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

Style	Citing Format
MLA	Kaiyrzhanov R, et al.. "Phenotypic Continuum of Nfu1-Related Disorders." Annals of Clinical and Translational Neurology, vol. 9, no. 12, 2022, pp. 2025-2035.
APA	Kaiyrzhanov R, Zaki MS, Lau T, Sen S, Azizimalamiri R, Zamani M, Sayin GY, Hilander T, Efthymiou S, Chelban V, Brown R, Thompson K, Scarano MI, Ganesh J, Koneev K, Gulacar IM, Person R, Sadykova D, Maidyrov Y, ... Maroofian R (2022). Phenotypic Continuum of Nfu1-Related Disorders. Annals of Clinical and Translational Neurology, 9(12), 2025-2035.
Chicago	Kaiyrzhanov R, Zaki MS, Lau T, Sen S, Azizimalamiri R, Zamani M, Sayin GY, et al.. "Phenotypic Continuum of Nfu1-Related Disorders." Annals of Clinical and Translational Neurology 9, no. 12 (2022): 2025-2035.
Harvard	Kaiyrzhanov R et al. (2022) 'Phenotypic Continuum of Nfu1-Related Disorders', Annals of Clinical and Translational Neurology, 9(12), pp. 2025-2035.
Vancouver	Kaiyrzhanov R, Zaki MS, Lau T, Sen S, Azizimalamiri R, Zamani M, et al.. Phenotypic Continuum of Nfu1-Related Disorders. Annals of Clinical and Translational Neurology. 2022;9(12):2025-2035.
BibTex	@article{ author = {Kaiyrzhanov R and Zaki MS and Lau T and Sen S and Azizimalamiri R and Zamani M and Sayin GY and Hilander T and Efthymiou S and Chelban V and Brown R and Thompson K and Scarano MI and Ganesh J and Koneev K and Gulacar IM and Person R and Sadykova D and Maidyrov Y and Seifi T and Zadagali A and Bernard G and Allis K and Elloumi HZ and Lindy A and Taghiabadi E and Verma S and Logan R and Kirmse B and Bai R and Khalaf SM and Abdelhamid MS and Sedaghat A and Shariati G and Issa M and Zeighami J and Elbendary HM and Brown G and Taylor RW and Galehdari H and Gleeson JJ and Carroll CJ and Cowan JA and Morenodeluca A and Houlden H and Maroofian R}, title = {Phenotypic Continuum of Nfu1-Related Disorders}, journal = {Annals of Clinical and Translational Neurology}, volume = {9}, number = {12}, pages = {2025-2035}, year = {2022} }
RIS	TY - JOUR AU - Kaiyrzhanov R AU - Zaki MS AU - Lau T AU - Sen S AU - Azizimalamiri R AU - Zamani M AU - Sayin GY AU - Hilander T AU - Efthymiou S AU - Chelban V AU - Brown R AU - Thompson K AU - Scarano MI AU - Ganesh J AU - Koneev K AU - Gulacar IM AU - Person R AU - Sadykova D AU - Maidyrov Y AU - Seifi T AU - Zadagali A AU - Bernard G AU - Allis K AU - Elloumi HZ AU - Lindy A AU - Taghiabadi E AU - Verma S AU - Logan R AU - Kirmse B AU - Bai R AU - Khalaf SM AU - Abdelhamid MS AU - Sedaghat A AU - Shariati G AU - Issa M AU - Zeighami J AU - Elbendary HM AU - Brown G AU - Taylor RW AU - Galehdari H AU - Gleeson JJ AU - Carroll CJ AU - Cowan JA AU - Morenodeluca A AU - Houlden H AU - Maroofian R TI - Phenotypic Continuum of Nfu1-Related Disorders JO - Annals of Clinical and Translational Neurology VL - 9 IS - 12 SP - 2025 EP - 2035 PY - 2022 ER -

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Abstract