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1. Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations

Author

Yahia, Ashraf, Hamed, Ahlam A. A., Mohamed, Inaam N., Elseed, Maha A., Salih, Mustafa A., El-sadig, Sarah M., Siddig, Hassab Elrasoul, Nasreldien, Ali Elsir Musa, Abdullah, Mohamed Ahmed, Elzubair, Maha, Omer, Farouk Yassen, Bakhiet, Aisha Motwakil, Abubaker, Rayan, Abozar, Fatima, Adil, Rawaa, Emad, Sara, Musallam, Mhammed Alhassan, Eltazi, Isra Z. M., Omer, Zulfa, Malik, Hiba, Mohamed, Mayada O. E., Elhassan, Ali A., Mohamed, Eman O. E., Ahmed, Ahmed K. M. A., Ahmed, Elhami A. A., Eltaraifee, Esraa, Hussein, Bidour K., Abd Allah, Amal S. I., Salah, Lina, Nimir, Mohamed, Tag Elseed, Omnia M., Elhassan, Tasneem E. A., Elbashier, Abubakr, Alfadul, Esraa S. A., Fadul, Moneeb, Ali, Khalil F., Taha, Shaimaa Omer M. A., Bushara, Elfatih E., Amin, Mutaz, Koko, Mahmoud, Ibrahim, Muntaser E., Ahmed, Ammar E., Elsayed, Liena E. O., and Stevanin, Giovanni

Published
2024
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4. Novel variants causing megalencephalic leukodystrophy in Sudanese families

Author

Amin, Mutaz, Vignal, Cedric, Hamed, Ahlam A. A., Mohammed, Inaam N., Elseed, Maha A., Drunat, Severine, Babai, Arwa, Eltaraifee, Esraa, Elbadi, Iman, Abubaker, Rayan, Mustafa, Doaa, Yahia, Ashraf, Koko, Mahmoud, Osman, Melka, Bakhit, Yousuf, Elshafea, Azza, Alsiddig, Mohamed, Haroun, Sahwah, Lelay, Gurvan, Elsayed, Liena E. O., Ahmed, Ammar E., Boespflug-Tanguy, Odile, and Dorboz, Imen

Published
2022
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7. Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage

Author

Martins, Sandra, primary, Yahia, Ashraf, additional, Costa, Inês P. D., additional, Siddig, Hassab E., additional, Abubaker, Rayan, additional, Koko, Mahmoud, additional, Corral-Juan, Marc, additional, Matilla-Dueñas, Antoni, additional, Brice, Alexis, additional, Durr, Alexandra, additional, Leguern, Eric, additional, Ranum, Laura P. W., additional, Amorim, António, additional, Elsayed, Liena E. O., additional, Stevanin, Giovanni, additional, and Sequeiros, Jorge, additional

Published
2023
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8. Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan

Author

Bakhit, Yousuf, primary, Ibrahim, Mohamed O., additional, Tesson, Christelle, additional, Elhassan, Ali A., additional, Ahmed, Mohamed Anwer, additional, Alebeed, Mohamed A., additional, Elrasheed, Salma M., additional, Omar, Mawia A., additional, Abubaker, Rayan, additional, Eltom, Khalid, additional, Shaheen, Mutaz T., additional, Ibrahim, Yousuf A., additional, Almak, Murad E., additional, Ali, Hiba A., additional, Abugrain, Ahmed A., additional, Almahal, Mohamed A., additional, MohamedSharif, Abubaker A., additional, Tahir, Mohamed Y., additional, Malik, Sawazen M., additional, Eldirdiri Abdelrahman, Hazim, additional, Khidir, Reem J., additional, Mohamed, Malaz T., additional, Abdalla, Abdelmohaymin, additional, Elsayed, Liena E.O., additional, Lesage, Suzanne, additional, Corvol, Jean-Christophe, additional, Seidi, Osheik, additional, and Wüllner, Ullrich, additional

Published
2023
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9. Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan

Author

Bakhit, Yousuf, Ibrahim, Mohamed O., Tesson, Christelle, Elhassan, Ali A., Ahmed, Mohamed Anwer, Alebeed, Mohamed A., Elrasheed, Salma M., Omar, Mawia A., Abubaker, Rayan, Eltom, Khalid, Shaheen, Mutaz T., Ibrahim, Yousuf A., Almak, Murad E., Ali, Hiba A., Abugrain, Ahmed A., Almahal, Mohamed A., MohamedSharif, Abubaker A., Tahir, Mohamed Y., Malik, Sawazen M., Abdelrahman, Hazim Eldirdiri, Khidir, Reem J., Mohamed, Malaz T., Abdalla, Abdelmohaymin, Elsayed, Liena E. O., Lesage, Suzanne, Corvol, Jean-Christophe, Seidi, Osheik, Wüllner, Ullrich, Bakhit, Yousuf, Ibrahim, Mohamed O., Tesson, Christelle, Elhassan, Ali A., Ahmed, Mohamed Anwer, Alebeed, Mohamed A., Elrasheed, Salma M., Omar, Mawia A., Abubaker, Rayan, Eltom, Khalid, Shaheen, Mutaz T., Ibrahim, Yousuf A., Almak, Murad E., Ali, Hiba A., Abugrain, Ahmed A., Almahal, Mohamed A., MohamedSharif, Abubaker A., Tahir, Mohamed Y., Malik, Sawazen M., Abdelrahman, Hazim Eldirdiri, Khidir, Reem J., Mohamed, Malaz T., Abdalla, Abdelmohaymin, Elsayed, Liena E. O., Lesage, Suzanne, Corvol, Jean-Christophe, Seidi, Osheik, and Wüllner, Ullrich

Abstract

PINK1 is the second most predominant gene associated with autosomal recessive Parkinson's disease. Homo-zygous mutations in this gene are associated with an early onset of symptoms. Bradykinesia, tremors, and rigidity are common features, while dystonia, motor fluctuation, and non-motor symptoms occur in a lower percentage of cases and usually respond well to levodopa. We investigated 14 individuals with parkinsonism and eleven symptom-free siblings from three consanguineous Sudanese families, two of them multigenerational, using a custom gene panel screening 34 genes, 27 risk variants, and 8 candidate genes associated with parkinsonism. We found a known pathogenic nonsense PINK1 variant (NM_032409.3:c.1366C>T; p.(Gln456*)), a novel pathogenic single base duplication (NM_032409.3:c.1597dup; p.(Gln533Profs*29)), and another novel pathogenic insertion (NM_032409.3:c.1448_1449ins[1429_1443; TTGAG]; p.(Arg483Serfs*7)). All variants were homozygous and co -segregated in all affected family members. We also identified intrafamilial and interfamilial phenotypic het-erogeneity associated with PINK1 mutations in these Sudanese cases, possibly reflecting the nature of the Sudanese population that has a large effective population size, which suggests a higher possibility of novel findings in monogenic and polygenic diseases in Sudan.

Published
2023
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10. Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degeneration

Author

Stevanin, Giovanni, primary, Hamed, Ahlam, additional, Mohamed, Inaam, additional, Elseed, Maha, additional, Salih, Mustafa, additional, Elsadig, Sarah, additional, Siddig, Hassab Elrasoul, additional, Nasreldien, Ali, additional, Abdullah, Mohamed Ahmed, additional, Elzubair, Maha, additional, Omer, Farouk, additional, BAKHIET, Aisha, additional, Abubaker, Rayan, additional, Abozar, Fatima, additional, Adil, Rawaa, additional, Emad, Sara, additional, Musallam, Mhammed Alhassan, additional, Eltazi, Isra, additional, Omer, Zulfa, additional, Malik, Hiba, additional, Mohamed, Mayada, additional, Elhassan, Ali, additional, Mohamed, Eman, additional, Ahmed, Ahmed, additional, Ahmed, Elhami, additional, Eltaraifee, Esraa, additional, Hussein, Bidour, additional, Allah, Amal Abd, additional, Mohamed, Lina, additional, Nimir, Mohamed, additional, Elseed, Omnia Tag, additional, Elhassan, Tasneem, additional, Elbashier, Abubakr, additional, Alfadul, Esraa, additional, Fadul, Moneeb, additional, Ali, Khalil, additional, Taha, Shaimaa, additional, Bushara, Elfatih, additional, Amin, Mutaz, additional, koko, Mahmoud, additional, Ibrahim, Muntaser, additional, Ahmed, Ammar, additional, Elsayed, Liena, additional, and Yahia, Ashraf, additional

Published
2022
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11. Methylation of alpha-synuclein in a Sudanese cohort

Author

Bakhit, Yousuf, primary, Schmitt, Ina, additional, Hamed, Ahlam, additional, Ibrahim, Etedal Ahmed A., additional, Mohamed, Inaam N., additional, El-Sadig, Sarah M., additional, Elseed, Maha A., additional, Alebeed, Mohamed A., additional, Shaheen, Mutaz T., additional, Ibrahim, Mohamed O., additional, Elhassan, Ali A., additional, Eltom, Khalid, additional, Ali, Hiba A., additional, Ibrahim, Yousuf A., additional, Almak, Murad E., additional, Abubaker, Rayan, additional, Ahmed, Mohamed Anwer, additional, Abugrain, Ahmed A., additional, Elrasheed, Salma M., additional, Omar, Mawia A., additional, Almahal, Mohamed A., additional, MohamedSharif, Abubaker A., additional, Tahir, Mohamed Y., additional, Malik, Sawazen M., additional, Eldirdiri, Hazim S., additional, Khidir, Reem J., additional, Mohamed, Malaz T., additional, Abdalla, Abdelmohaymin, additional, Omer, Farouk Yassen, additional, Elsayed, Liena E.O., additional, Babikir, Haydar El Hadi, additional, Bukhari, Elfateh Abd-Allah, additional, Seidi, Osheik, additional, and Wüllner, Ullrich, additional

Published
2022
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12. Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan

Author

Amin, Mutaz, primary, Vignal, Cedric, additional, Hamed, Ahlam A. A., additional, Mohammed, Inaam N., additional, Elseed, Maha A., additional, Abubaker, Rayan, additional, Bakhit, Yousuf, additional, Babai, Arwa, additional, Elbadi, Eman, additional, Eltaraifee, Esraa, additional, Mustafa, Doua, additional, Yahia, Ashraf, additional, Osman, Melka, additional, Koko, Mahmoud, additional, Mustafa, Mohamed, additional, Alsiddig, Mohamed, additional, Haroun, Sahwah, additional, Elshafea, Azza, additional, Drunat, Severine, additional, Elsayed, Liena E. O., additional, Ahmed, Ammar E., additional, Boespflug-Tanguy, Odile, additional, and Dorboz, Imen, additional

Published
2022
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13. Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

Author

Yahia, Ashraf, Elsayed, Liena, Valter, Remi, Hamed, Ahlam, Mohammed, Inaam, Elseed, Maha, Salih, Mustafa, Esteves, Typhaine, Auger, Nicolas, Abubaker, Rayan, Koko, Mahmoud, Abozar, Fatima, Malik, Hiba, Adil, Rawaa, Emad, Sara, Musallam, Mhammed Alhassan, Idris, Razaz, Eltazi, Isra, Babai, Arwa, Ahmed, Elhami, Abd Allah, Amal, Mairey, Mathilde, Ahmed, Ahmed, Elbashir, Mustafa, Brice, Alexis, Ibrahim, Muntaser, Ahmed, Ammar, Lamari, Foudil, Stevanin, Giovanni, University of Khartoum, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Princess Nourah Bint Abdulrahman University, King Saud University [Riyadh] (KSU), Hertie Institute for Clinical Brain Research [Tubingen], University of Tübingen, Letterkenny Institute of Technology (LYIT), Osaka University [Osaka], Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique [CHU Pitié Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), HAL-SU, Gestionnaire, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), and Letterkenny Institute of Technology

Subjects
phosphatidylserine, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Neurology, targeted-metabolomics, lipid metabolism, next-generation sequencing, ABHD16A, hereditary spastic paraplegia, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Original Research
Abstract

International audience; Introduction: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurological entity that includes more than 80 disorders which share lower limb spasticity as a common feature. Abnormalities in multiple cellular processes are implicated in their pathogenesis, including lipid metabolism; but still 40% of the patients are undiagnosed. Our goal was to identify the disease-causing variants in Sudanese families excluded for known genetic causes and describe a novel clinico-genetic entity.Methods: We studied four patients from two unrelated consanguineous Sudanese families who manifested a neurological phenotype characterized by spasticity, psychomotor developmental delay and/or regression, and intellectual impairment. We applied next-generation sequencing, bioinformatics analysis, and Sanger sequencing to identify the genetic culprit. We then explored the consequences of the identified variants in patients-derived fibroblasts using targeted-lipidomics strategies.Results and Discussion: Two homozygous variants in ABHD16A segregated with the disease in the two studied families. ABHD16A encodes the main brain phosphatidylserine hydrolase. In vitro, we confirmed that ABHD16A loss of function reduces the levels of certain long-chain lysophosphatidylserine species while increases the levels of multiple phosphatidylserine species in patient's fibroblasts.Conclusion: ABHD16A loss of function is implicated in the pathogenesis of a novel form of complex hereditary spastic paraplegia.

Published
2021

14. Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy

Author

Dahawi, Maha, primary, Elmagzoub, Mohamed S., additional, A. Ahmed, Elhami, additional, Baldassari, Sara, additional, Achaz, Guillaume, additional, Elmugadam, Fatima A., additional, Abdelgadir, Wasma A., additional, Baulac, Stéphanie, additional, Buratti, Julien, additional, Abdalla, Omer, additional, Gamil, Sahar, additional, Alzubeir, Maha, additional, Abubaker, Rayan, additional, Noé, Eric, additional, Elsayed, Liena, additional, Ahmed, Ammar E., additional, and Leguern, Eric, additional

Published
2021
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15. Novel variants causing megalencephalic leukodystrophy in Sudanese families

Author

Amin, Mutaz, primary, Vignal, Cedric, additional, Hamed, Ahlam A. A., additional, Mohammed, Inaam N., additional, Elseed, Maha A., additional, Drunat, Severine, additional, Babai, Arwa, additional, Eltaraifee, Esraa, additional, Elbadi, Iman, additional, Abubaker, Rayan, additional, Mustafa, Doaa, additional, Yahia, Ashraf, additional, Koko, Mahmoud, additional, Osman, Melka, additional, Bakhit, Yousuf, additional, Elshafea, Azza, additional, Alsiddig, Mohamed, additional, Haroun, Sahwah, additional, Lelay, Gurvan, additional, Elsayed, Liena E. O., additional, Ahmed, Ammar E., additional, Boespflug-Tanguy, Odile, additional, and Dorboz, Imen, additional

Published
2021
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16. Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.

Author

Yahia, Ashraf, Ayed, Ikhlas Ben, Hamed, Ahlam A., Mohammed, Inaam N., Elseed, Maha A., Bakhiet, Aisha M., Guillot‐Noel, Lena, Abozar, Fatima, Adil, Rawaa, Emad, Sara, Abubaker, Rayan, Musallam, Mhammed Alhassan, Eltazi, Isra Z. M., Omer, Zulfa, Maaroof, Omer M., Soussi, Amal, Bouzid, Amal, Kmiha, Sana, Kamoun, Hassen, and Salih, Mustafa A.

Subjects
INTELLECTUAL disabilities, EXOMES, GENETIC disorder diagnosis, SUDANESE, TUNISIANS, FAMILIES
Abstract

Background: Intellectual disability is a form of neurodevelopmental disorders that begin in childhood and is characterized by substantial intellectual difficulties as well as difficulties in conceptual, social, and practical areas of living. Several genetic and nongenetic factors contribute to its development; however, its most severe forms are generally attributed to single‐gene defects. High‐throughput technologies and data sharing contributed to the diagnosis of hundreds of single‐gene intellectual disability subtypes. Method: We applied exome sequencing to identify potential variants causing syndromic intellectual disability in six Sudanese patients from four unrelated families. Data sharing through the Varsome portal corroborated the diagnosis of one of these patients and a Tunisian patient investigated through exome sequencing. Sanger sequencing validated the identified variants and their segregation with the phenotypes in the five studied families. Result: We identified three pathogenic/likely pathogenic variants in CCDC82, ADAT3, and HUWE1 and variants of uncertain significance in HERC2 and ATP2B3. The patients with the CCDC82 variants had microcephaly and spasticity, two signs absent in the two previously reported families with CCDC82‐related intellectual disability. Conclusion: In conclusion, we report new patients with pathogenic mutations in the genes CCDC82, ADAT3, and HUWE1. We also highlight the possibility of extending the CCDC82‐linked phenotype to include spastic paraplegia and microcephaly. [ABSTRACT FROM AUTHOR]

Published
2022
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17. Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

Author

Elsayed, Liena E. O., primary, Mohammed, Inaam N., additional, Hamed, Ahlam A. A., additional, Elseed, Maha A., additional, Salih, Mustafa A. M., additional, Yahia, Ashraf, additional, Abubaker, Rayan, additional, Koko, Mahmoud, additional, Abd Allah, Amal S. I., additional, Elbashir, Mustafa I., additional, Ibrahim, Muntaser E., additional, Brice, Alexis, additional, Ahmed, Ammar E., additional, and Stevanin, Giovanni, additional

Published
2020
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18. Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

Author

Elsayed, Liena, Mohammed, Inaam, Hamed, Ahlam, Elseed, Maha, Salih, Mustafa, Yahia, Ashraf, Abubaker, Rayan, Koko, Mahmoud, Abd Allah, Amal, Elbashir, Mustafa, Ibrahim, Muntaser, Brice, Alexis, Ahmed, Ammar, Stevanin, Giovanni, University of Khartoum, Princess Nourah Bint Abdulrahman University, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), King Saud University [Riyadh] (KSU), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Hertie Institute for Clinical Brain Research [Tubingen], University of Tübingen, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Gestionnaire, Hal Sorbonne Université

Subjects
[SDV] Life Sciences [q-bio], Sudan, spastic quadriplegia, Neurology, [SDV]Life Sciences [q-bio], hyperargininemia, Case Report, ARG1 gene, whole exome sequencing
Abstract

International audience; Background: Arginases catalyze the last step in the urea cycle. Hyperargininemia, a rare autosomal-recessive disorder of the urea cycle, presents after the first year of age with regression of milestones and evolves gradually into progressive spastic quadriplegia and cognitive dysfunction. Genetic studies reported various mutations in the ARG1 gene that resulted in hyperargininemia due to a complete or partial loss of arginase activity. Case Presentation: Five patients from an extended highly consanguineous Sudanese family presented with regression of the acquired milestones, spastic quadriplegia, and mental retardation. The disease onset ranged from 1 to 3 years of age. Two patients had epileptic seizures and one patient had stereotypic clapping. Genetic testing using whole-exome sequencing, done for the patients and a healthy parent, confirmed the presence of a homozygous novel missense variant in the ARG1 gene [GRCh37 (NM_001244438.1): exon 4: g.131902487T>A, c.458T>A, p.(Val153Glu)]. The variant was predicted pathogenic by five algorithms and affected a highly conserved amino acid located in the protein domain ureohydrolase, arginase subgroup. Sanger sequencing of 13 sampled family members revealed complete co-segregation between the variant and the disease distribution in the family in line with an autosomal-recessive mode of inheritance. Biochemical analysis confirmed hyperargininemia in five patients. Conclusion: This study reports the first Sudanese family with ARG1 mutation. The reported variant is a loss-of-function missense mutation. Its pathogenicity is strongly supported by the clinical phenotype, the computational functional impact prediction, the complete co-segregation with the disease, and the biochemical assessment.

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19. A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2 -related disorders caused by missense changes.

Author

Flannery KP, Safwat S, Matsell E, Battula N, Hamed AAA, Mohamed IN, Elseed MA, Koko M, Abubaker R, Abozar F, Elsayed LEO, Bhise V, Molday RS, Salih MA, Yahia A, and Manzini MC

Abstract

ATPase, class 1, type 8A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in ATP8A2 are known to cause cerebellar ataxia, mental retardation, and disequilibrium syndrome 4 (CAMRQ4) which is often associated with encephalopathy, global developmental delay, and severe motor deficits. Here, we present a family with two siblings presenting with global developmental delay, intellectual disability, spasticity, ataxia, nystagmus, and thin corpus callosum. Whole exome sequencing revealed a homozygous missense variant in the nucleotide binding domain of ATP8A2 (p.Leu538Pro) that results in near complete loss of protein expression. This is in line with other missense variants in the same domain leading to protein misfolding and loss of ATPase function. In addition, by performing diffusion-weighted imaging, we identified bilateral hyperintensities in the posterior limbs of the internal capsule suggesting possible microstructural changes in axon tracts that had not been appreciated before and could contribute to the sensorimotor deficits in these individuals., Competing Interests: Conflict of Interest The authors declare no conflicts of interest.

Published
2024
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