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=Volume 13 - 2022

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 characterised by intellectual disability, microcephaly, severe developmental delay, pyramidal signs and mild cerebellar atrophy and white matter changes in brain Magnetic Resonance Imaging (MRI). The disease has been described in only twenty-one patients from ten Turkish families with a founder missense mutation in CLP1 gene which is involved in tRNA processing and maturation.  We analysed three siblings from a consanguineous Sudanese family who presented with intellectual disability, dysmorphic features, developmental delay, and regression of milestones, microcephaly, epilepsy, extrapyramidal signs and mild pontine and cerebellar atrophy. We identified through whole exome sequencing the same mutation (c.419G>A; p.(Arg140His) that has been reported before in all Turkish families. Our study extends the phenotypes of PCH10 and reports for the first time cases with PCH10 from non-Turkish origin.