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Case Report : A New Family With Pontocerebellar Hypoplasia 10 From Sudan

Amin, Mutaz ; Vignal, Cedric ; Hamed, Ahlam A.A. ; Mohammed, Inaam N. ; Elseed, Maha A. ; Abubaker, Rayan ; Bakhit, Yousuf ; Babai, Arwa ; Elbadi, Eman and Eltaraifee, Esraa , et al. (2022) In Frontiers in Genetics 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... (More)

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.

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publishing date
type
Contribution to journal
publication status
published
keywords
CLP1, family, pontocerebellar hypoplasia, pontocerebellar hypoplasia 10, Sudan
in
Frontiers in Genetics
volume
13
article number
883211
publisher
Frontiers Media S. A.
external identifiers
  • scopus:85132812489
ISSN
1664-8021
DOI
10.3389/fgene.2022.883211
language
English
LU publication?
no
additional info
Publisher Copyright: Copyright © 2022 Amin, Vignal, Hamed, Mohammed, Elseed, Abubaker, Bakhit, Babai, Elbadi, Eltaraifee, Mustafa, Yahia, Osman, Koko, Mustafa, Alsiddig, Haroun, Elshafea, Drunat, Elsayed, Ahmed, Boespflug-Tanguy and Dorboz.
id
a3b14976-7ce4-4039-b411-655f922f788a
date added to LUP
2026-06-05 10:39:19
date last changed
2026-06-06 03:34:13
@article{a3b14976-7ce4-4039-b411-655f922f788a,
  abstract     = {{<p>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&gt;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.</p>}},
  author       = {{Amin, Mutaz and Vignal, Cedric and Hamed, Ahlam A.A. and Mohammed, Inaam N. and Elseed, Maha A. and Abubaker, Rayan and Bakhit, Yousuf and Babai, Arwa and Elbadi, Eman and Eltaraifee, Esraa and Mustafa, Doua and Yahia, Ashraf and Osman, Melka and Koko, Mahmoud and Mustafa, Mohamed and Alsiddig, Mohamed and Haroun, Sahwah and Elshafea, Azza and Drunat, Severine and Elsayed, Liena E.O. and Ahmed, Ammar E. and Boespflug-Tanguy, Odile and Dorboz, Imen}},
  issn         = {{1664-8021}},
  keywords     = {{CLP1; family; pontocerebellar hypoplasia; pontocerebellar hypoplasia 10; Sudan}},
  language     = {{eng}},
  month        = {{06}},
  publisher    = {{Frontiers Media S. A.}},
  series       = {{Frontiers in Genetics}},
  title        = {{Case Report : A New Family With Pontocerebellar Hypoplasia 10 From Sudan}},
  url          = {{http://dx.doi.org/10.3389/fgene.2022.883211}},
  doi          = {{10.3389/fgene.2022.883211}},
  volume       = {{13}},
  year         = {{2022}},
}