Frontiers in Genetics (Jun 2022)
Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan
- 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
Affiliations
- Mutaz Amin
- Faculty of Medicine, Al-Neelain University, Khartoum, Sudan
- Mutaz Amin
- INSERM UMR 1141 PROTECT, Université Paris Diderot-Sorbonne, Paris, France
- Cedric Vignal
- Unité de Génétique Moleculaire, Departement de Genetique Médicale, APHP, Hopital Robert-Debré, Paris, France
- Ahlam A. A. Hamed
- Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Inaam N. Mohammed
- Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Maha A. Elseed
- Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Rayan Abubaker
- Neurogenetics Research group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Rayan Abubaker
- National University Biomedical Research Institute, National University-Sudan, Khartoum, Sudan
- Yousuf Bakhit
- Faculty of Dentistry, University of Khartoum, Khartoum, Sudan
- Yousuf Bakhit
- Department of Neurobiology, Centre for Neurology, UKB, University of Bonn, Bonn, Germany
- Arwa Babai
- Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Eman Elbadi
- Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Esraa Eltaraifee
- Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Doua Mustafa
- Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Ashraf Yahia
- Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Melka Osman
- Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Mahmoud Koko
- Neurogenetics Research group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Mohamed Mustafa
- Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Mohamed Alsiddig
- Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Sahwah Haroun
- Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Azza Elshafea
- Neurogenetics Research group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Severine Drunat
- INSERM UMR 1141 PROTECT, Université Paris Diderot-Sorbonne, Paris, France
- Severine Drunat
- Unité de Génétique Moleculaire, Departement de Genetique Médicale, APHP, Hopital Robert-Debré, Paris, France
- Liena E. O. Elsayed
- Department of Basic Sciences, College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia
- Ammar E. Ahmed
- Faculty of Medicine, University of Khartoum, Khartoum, Sudan
- Odile Boespflug-Tanguy
- INSERM UMR 1141 PROTECT, Université Paris Diderot-Sorbonne, Paris, France
- Odile Boespflug-Tanguy
- 0Neuropediatrics and Metabolic Disorders Department, Reference Center for Leukodystrophies and Rare Leukoencéphalopathies (LEUKOFRANCE), CHU APHP Robert-Debré, Paris, France
- Imen Dorboz
- INSERM UMR 1141 PROTECT, Université Paris Diderot-Sorbonne, Paris, France
- Imen Dorboz
- 0Neuropediatrics and Metabolic Disorders Department, Reference Center for Leukodystrophies and Rare Leukoencéphalopathies (LEUKOFRANCE), CHU APHP Robert-Debré, Paris, France
- DOI
- https://doi.org/10.3389/fgene.2022.883211
- Journal volume & issue
-
Vol. 13
Abstract
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.
Keywords
