AUTHOR=Amin Mutaz , Vignal Cedric , Hamed Ahlam A. A. , Mohammed Inaam N. , Elseed Maha A. , Abubaker Rayan , Bakhit Yousuf , Babai Arwa , Elbadi Eman , Eltaraifee Esraa , Mustafa Doua , Yahia Ashraf , Osman Melka , Koko Mahmoud , Mustafa Mohamed , Alsiddig Mohamed , Haroun Sahwah , Elshafea Azza , Drunat Severine , Elsayed Liena E. O. , Ahmed Ammar E. , Boespflug-Tanguy Odile , Dorboz Imen TITLE=Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan JOURNAL=Frontiers in Genetics VOLUME=13 YEAR=2022 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.883211 DOI=10.3389/fgene.2022.883211 ISSN=1664-8021 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.