Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan
Pontocerebellar hypoplasia type 10 (PCH10) is a very rare autosomal recessive neurodegenerative disease characterized by intellectual disability, microcephaly, severe developmental delay, pyramidal signs, mild cerebellar atrophy, and white matter changes in the brain, as shown by magnetic resonance...
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Frontiers Media S.A.
2022-06-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.883211/full |
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| author | Mutaz Amin Mutaz Amin Cedric Vignal Ahlam A. A. Hamed Inaam N. Mohammed Maha A. Elseed Rayan Abubaker Rayan Abubaker Yousuf Bakhit Yousuf Bakhit Arwa Babai Eman Elbadi Esraa Eltaraifee Doua Mustafa Ashraf Yahia Melka Osman Mahmoud Koko Mohamed Mustafa Mohamed Alsiddig Sahwah Haroun Azza Elshafea Severine Drunat Severine Drunat Liena E. O. Elsayed Ammar E. Ahmed Odile Boespflug-Tanguy Odile Boespflug-Tanguy Imen Dorboz Imen Dorboz |
| author_facet | Mutaz Amin Mutaz Amin Cedric Vignal Ahlam A. A. Hamed Inaam N. Mohammed Maha A. Elseed Rayan Abubaker Rayan Abubaker Yousuf Bakhit Yousuf Bakhit Arwa Babai Eman Elbadi Esraa Eltaraifee Doua Mustafa Ashraf Yahia Melka Osman Mahmoud Koko Mohamed Mustafa Mohamed Alsiddig Sahwah Haroun Azza Elshafea Severine Drunat Severine Drunat Liena E. O. Elsayed Ammar E. Ahmed Odile Boespflug-Tanguy Odile Boespflug-Tanguy Imen Dorboz Imen Dorboz |
| author_sort | Mutaz Amin |
| collection | DOAJ |
| description | Pontocerebellar hypoplasia type 10 (PCH10) is a very rare autosomal recessive neurodegenerative disease characterized by intellectual disability, microcephaly, severe developmental delay, pyramidal signs, mild cerebellar atrophy, and white matter changes in the brain, as shown by magnetic resonance imaging (MRI). The disease has been described in only twenty-one patients from ten Turkish families with a founder missense pathogenic variant in the CLP1 gene involved in tRNA processing and maturation. We analyzed three siblings from a consanguineous Sudanese family who presented with intellectual disability, dysmorphic features, developmental delay, regression of milestones, microcephaly, epilepsy, extrapyramidal signs, mild pontine, and cerebellar atrophy. We identified through whole-exome sequencing the same pathogenic variant (c.419G>A; p(Arg140His) reported before in all Turkish families. Our study extends the phenotypes of PCH10 and reports for the first time cases with PCH10 of non-Turkish origin. |
| first_indexed | 2024-12-12T19:37:10Z |
| format | Article |
| id | doaj.art-1cd975adeba04a9c92e4e4580aa75855 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-12T19:37:10Z |
| publishDate | 2022-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-1cd975adeba04a9c92e4e4580aa758552022-12-22T00:14:16ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-06-011310.3389/fgene.2022.883211883211Case Report: A New Family With Pontocerebellar Hypoplasia 10 From SudanMutaz Amin0Mutaz Amin1Cedric Vignal2Ahlam A. A. Hamed3Inaam N. Mohammed4Maha A. Elseed5Rayan Abubaker6Rayan Abubaker7Yousuf Bakhit8Yousuf Bakhit9Arwa Babai10Eman Elbadi11Esraa Eltaraifee12Doua Mustafa13Ashraf Yahia14Melka Osman15Mahmoud Koko16Mohamed Mustafa17Mohamed Alsiddig18Sahwah Haroun19Azza Elshafea20Severine Drunat21Severine Drunat22Liena E. O. Elsayed23Ammar E. Ahmed24Odile Boespflug-Tanguy25Odile Boespflug-Tanguy26Imen Dorboz27Imen Dorboz28Faculty of Medicine, Al-Neelain University, Khartoum, SudanINSERM UMR 1141 PROTECT, Université Paris Diderot-Sorbonne, Paris, FranceUnité de Génétique Moleculaire, Departement de Genetique Médicale, APHP, Hopital Robert-Debré, Paris, FranceFaculty of Medicine, University of Khartoum, Khartoum, SudanFaculty of Medicine, University of Khartoum, Khartoum, SudanFaculty of Medicine, University of Khartoum, Khartoum, SudanNeurogenetics Research group, Faculty of Medicine, University of Khartoum, Khartoum, SudanNational University Biomedical Research Institute, National University-Sudan, Khartoum, SudanFaculty of Dentistry, University of Khartoum, Khartoum, SudanDepartment of Neurobiology, Centre for Neurology, UKB, University of Bonn, Bonn, GermanyFaculty of Medicine, University of Khartoum, Khartoum, SudanFaculty of Medicine, University of Khartoum, Khartoum, SudanFaculty of Medicine, University of Khartoum, Khartoum, SudanFaculty of Medicine, University of Khartoum, Khartoum, SudanFaculty of Medicine, University of Khartoum, Khartoum, SudanFaculty of Medicine, University of Khartoum, Khartoum, SudanNeurogenetics Research group, Faculty of Medicine, University of Khartoum, Khartoum, SudanFaculty of Medicine, University of Khartoum, Khartoum, SudanFaculty of Medicine, University of Khartoum, Khartoum, SudanFaculty of Medicine, University of Khartoum, Khartoum, SudanNeurogenetics Research group, Faculty of Medicine, University of Khartoum, Khartoum, SudanINSERM UMR 1141 PROTECT, Université Paris Diderot-Sorbonne, Paris, FranceUnité de Génétique Moleculaire, Departement de Genetique Médicale, APHP, Hopital Robert-Debré, Paris, FranceDepartment of Basic Sciences, College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, Saudi ArabiaFaculty of Medicine, University of Khartoum, Khartoum, SudanINSERM UMR 1141 PROTECT, Université Paris Diderot-Sorbonne, Paris, France0Neuropediatrics and Metabolic Disorders Department, Reference Center for Leukodystrophies and Rare Leukoencéphalopathies (LEUKOFRANCE), CHU APHP Robert-Debré, Paris, FranceINSERM UMR 1141 PROTECT, Université Paris Diderot-Sorbonne, Paris, France0Neuropediatrics and Metabolic Disorders Department, Reference Center for Leukodystrophies and Rare Leukoencéphalopathies (LEUKOFRANCE), CHU APHP Robert-Debré, Paris, FrancePontocerebellar hypoplasia type 10 (PCH10) is a very rare autosomal recessive neurodegenerative disease characterized by intellectual disability, microcephaly, severe developmental delay, pyramidal signs, mild cerebellar atrophy, and white matter changes in the brain, as shown by magnetic resonance imaging (MRI). The disease has been described in only twenty-one patients from ten Turkish families with a founder missense pathogenic variant in the CLP1 gene involved in tRNA processing and maturation. We analyzed three siblings from a consanguineous Sudanese family who presented with intellectual disability, dysmorphic features, developmental delay, regression of milestones, microcephaly, epilepsy, extrapyramidal signs, mild pontine, and cerebellar atrophy. We identified through whole-exome sequencing the same pathogenic variant (c.419G>A; p(Arg140His) reported before in all Turkish families. Our study extends the phenotypes of PCH10 and reports for the first time cases with PCH10 of non-Turkish origin.https://www.frontiersin.org/articles/10.3389/fgene.2022.883211/fullpontocerebellar hypoplasia 10CLP1Sudanpontocerebellar hypoplasiafamily |
| spellingShingle | Mutaz Amin Mutaz Amin Cedric Vignal Ahlam A. A. Hamed Inaam N. Mohammed Maha A. Elseed Rayan Abubaker Rayan Abubaker Yousuf Bakhit Yousuf Bakhit Arwa Babai Eman Elbadi Esraa Eltaraifee Doua Mustafa Ashraf Yahia Melka Osman Mahmoud Koko Mohamed Mustafa Mohamed Alsiddig Sahwah Haroun Azza Elshafea Severine Drunat Severine Drunat Liena E. O. Elsayed Ammar E. Ahmed Odile Boespflug-Tanguy Odile Boespflug-Tanguy Imen Dorboz Imen Dorboz Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan Frontiers in Genetics pontocerebellar hypoplasia 10 CLP1 Sudan pontocerebellar hypoplasia family |
| title | Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan |
| title_full | Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan |
| title_fullStr | Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan |
| title_full_unstemmed | Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan |
| title_short | Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan |
| title_sort | case report a new family with pontocerebellar hypoplasia 10 from sudan |
| topic | pontocerebellar hypoplasia 10 CLP1 Sudan pontocerebellar hypoplasia family |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.883211/full |
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