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7 results on '"Eltazi, Isra Z. M."'

1. Bi-allelic PRRT2variants may predispose to Self-limited Familial Infantile Epilepsy

Author

Koko, Mahmoud, Elseed, Maha A., Mohammed, Inaam N., Hamed, Ahlam A., Abd Allah, Amal S. I., Yahia, Ashraf, Siddig, Rayan A., Altmüller, Janine, Toliat, Mohammad Reza, Elmahdi, Esra O., Amin, Mutaz, Ahmed, Elhami A., Eltazi, Isra Z. M., Elmugadam, Fatima A., Abdelgadir, Wasma A., Eltaraifee, Esraa, Ibrahim, Mohamed O. M., Ali, Nabila M. H., Malik, Hiba M., Babai, Arwa M., Bakhit, Yousuf H., Nürnberg, Peter, Ibrahim, Muntaser E., Salih, Mustafa A., Schubert, Julian, Elsayed, Liena E. O., and Lerche, Holger

Abstract

Heterozygous PRRT2variants are frequently implicated in Self-limited Infantile Epilepsy, whereas homozygous variants are so far linked to severe presentations including developmental and epileptic encephalopathy, movement disorders, and intellectual disability. In a study aiming to explore the genetics of epilepsy in the Sudanese population, we investigated several families including a consanguineous family with three siblings diagnosed with self-limited infantile epilepsy. We evaluated both dominant and recessive inheritance using whole exome sequencing and genomic arrays. We identified a pathogenic homozygous splice-site variant in the first intron of PRRT2[NC_000016.10(NM_145239.3):c.-65-1G > A] that segregated with the phenotype in this family. This work taps into the genetics of epilepsy in an underrepresented African population and suggests that the phenotypes of homozygous PRRT2variants may include milder epilepsy presentations without movement disorders.

Published
2024
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2. 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

Abstract

Hereditary spinocerebellar degenerations (SCDs) is an umbrella term that covers a group of monogenic conditions that share common pathogenic mechanisms and include hereditary spastic paraplegia (HSP), cerebellar ataxia, and spinocerebellar ataxia. They are often complicated with axonal neuropathy and/or intellectual impairment and overlap with many neurological conditions, including neurodevelopmental disorders. More than 200 genes and loci inherited through all modes of Mendelian inheritance are known. Autosomal recessive inheritance predominates in consanguineous communities; however, autosomal dominant and X-linked inheritance can also occur. Sudan is inhabited by genetically diverse populations, yet it has high consanguinity rates. We used next-generation sequencing, genotyping, bioinformatics analysis, and candidate gene approaches to study 90 affected patients from 38 unrelated Sudanese families segregating multiple forms of SCDs. The age-at-onset in our cohort ranged from birth to 35 years; however, most patients manifested childhood-onset diseases (the mean and median ages at onset were 7.5 and 3 years, respectively). We reached the genetic diagnosis in 63% and possibly up to 73% of the studied families when considering variants of unknown significance. Combining the present data with our previous analysis of 25 Sudanese HSP families, the success rate reached 52–59% (31–35/59 families). In this article we report candidate variants in genes previously known to be associated with SCDs or other phenotypically related monogenic disorders. We also highlight the genetic and clinical heterogeneity of SCDs in Sudan, as we did not identify a major causative gene in our cohort, and the potential for discovering novel SCD genes in this population.

Published
2024
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3. Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy

Author

Koko, Mahmoud, primary, Elseed, Maha A., additional, Mohammed, Inaam N., additional, Hamed, Ahlam A., additional, Abd Allah, Amal S. I., additional, Yahia, Ashraf, additional, Siddig, Rayan A., additional, Altmüller, Janine, additional, Toliat, Mohammad Reza, additional, Elmahdi, Esra O., additional, Amin, Mutaz, additional, Ahmed, Elhami A., additional, Eltazi, Isra Z. M., additional, Elmugadam, Fatima A., additional, Abdelgadir, Wasma A., additional, Eltaraifee, Esraa, additional, Ibrahim, Mohamed O. M., additional, Ali, Nabila M. H., additional, Malik, Hiba M., additional, Babai, Arwa M., additional, Bakhit, Yousuf H., additional, Nürnberg, Peter, additional, Ibrahim, Muntaser E., additional, Salih, Mustafa A., additional, Schubert, Julian, additional, Elsayed, Liena E. O., additional, and Lerche, Holger, additional

Published
2024
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4. Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

Author

Yahia, Ashraf, primary, Elsayed, Liena E. O., additional, Valter, Remi, additional, Hamed, Ahlam A. A., additional, Mohammed, Inaam N., additional, Elseed, Maha A., additional, Salih, Mustafa A., additional, Esteves, Typhaine, additional, Auger, Nicolas, additional, Abubaker, Rayan, additional, Koko, Mahmoud, additional, Abozar, Fatima, additional, Malik, Hiba, additional, Adil, Rawaa, additional, Emad, Sara, additional, Musallam, Mhammed Alhassan, additional, Idris, Razaz, additional, Eltazi, Isra Z. M., additional, Babai, Arwa, additional, Ahmed, Elhami A. A., additional, Abd Allah, Amal S. I., additional, Mairey, Mathilde, additional, Ahmed, Ahmed K. M. A., additional, Elbashir, Mustafa I., additional, Brice, Alexis, additional, Ibrahim, Muntaser E., additional, Ahmed, Ammar E., additional, Lamari, Foudil, additional, and Stevanin, Giovanni, additional

Published
2021
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5. 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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6. Exome Sequencing Revealed Mutations in ADAT3 and HERC2 Genes in two Sudanese Families with Syndromic Mental Retardation

Author

Yahia, Ashraf, primary, Bakhiet, Aisha M., additional, Hamed, Ahlam A., additional, Abozar, Fatima, additional, Adil, Rawaa, additional, Emad, Sara, additional, Musallam, Mhammed Alhassan, additional, Eltazi, Isra Z. M., additional, Maaroof, Omer M., additional, Ahmed, Ammar E., additional, Elsayed, Liena E., additional, and Stevanin, Giovanni, additional

Published
2020
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