A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome-Reference-Cited by-同舟云学术

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome

Published:2020-03 Issue:3 Volume:63 Page:103766
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Nevanlinna Viivi,Konovalova Svetlana,Ceulemans Berten,Muona Mikko,Laari Anni,Hilander Taru,Gorski Katarin^ORCID,Valanne Leena,Anttonen Anna-Kaisa,Tyynismaa Henna,Courage Carolina,Lehesjoki Anna-Elina

Funder

Folkhälsan Research Foundation, Helsinki, Finland

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference44 articles.

1. Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described;Alfadhel;J. Child Neurol.,2011

2. Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous arab families with intellectual disability;Alkhateeb;Metab. Brain Dis.,2016

3. Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate;Anttonen;Neurology,2015

4. ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss;Anttonen;Brain,2017

5. PEHO syndrome: a study of five Argentinian patients;Caraballo;Pediatr. Neurol.,2011

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1. Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children;Neurological Sciences;2024-06-04

2. Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report;BMC Neurology;2024-03-04

3. Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations;Epilepsia Open;2023-12-08

4. Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome;American Journal of Medical Genetics Part A;2023-10-05

5. A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia;BMC Medical Genomics;2023-06-21