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dc.contributor.authorMazaheri, Mahta
dc.contributor.authorYavari, Mahdie
dc.contributor.authorZare Marzouni, Hadi
dc.contributor.authorStufano, Angela
dc.contributor.authorLovreglio, Piero
dc.contributor.authorS'Amore, Simona
dc.contributor.authorJahantigh, Hamid Reza
dc.date.accessioned2022-02-07T07:14:01Z
dc.date.available2022-02-07T07:14:01Z
dc.date.issued2022-01-24
dc.date.submitted2021-11-17
dc.identifier.other816987
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/333708
dc.description.abstractBackground: Leukodystrophies constitute a heterogeneous group of inherited disorders primarily affecting the white matter of the central nervous system. Aminoacyl-tRNA synthetases (ARSs) catalyze the attachment of an amino acids to their cognate transfer RNAs (tRNAs). Pathogenic variants in both cytosolic and mitochondrial ARSs have been linked to a broad range of neurological disorders, including hypomyelinating leukodystrophies and pontocerebellar hypoplasias (PCH). Aminoacyl tRNA synthetase-interacting multifunctional protein 2 (AIMP2), one of the three non-catalytic components of multi ARS complex, harbors anti-proliferative activity and functions as a proapoptotic factor thus promoting cell death. We report a case of a 7-month-old infant with a complex clinical presentation, including weight loss, severe anemia, skeletal abnormalities, microcephaly and MR imaging features of leukodystrophy with a novel mutation in AIMP2. Methods: Whole-exome sequencing (WES) was performed on the proband. Parental samples were analyzed by PCR amplification and Sanger sequencing. Results: Whole-exome sequencing revealed a novel variant c.A463T in the homozygous state in exon 3 (NM_001,326,607) of AIMP2 [p.(K155X)] in the proband. Parental carrier status was confirmed by target sequencing. Conclusion: Here, we present an Iranian case with leukodystrophy with a novel AIMP2 mutation. This finding broadens the mutational and phenotypic spectra of AIMP2-related leukodystrophy and offers guidance for proper genetic counselling for pre- and post-natal screenings as well as for disease management.
dc.languageen
dc.publisherFrontiers Media S.A.
dc.subjectGenetics
dc.subjectleukodystrophies
dc.subjectWES
dc.subjectAIMP2/P38
dc.subjectneurodevelopmental disorders
dc.subjectmulti-tRNA synthetase complex
dc.titleCase Report: Mutation in AIMP2/P38, the Scaffold for the Multi-Trna Synthetase Complex, and Association With Progressive Neurodevelopmental Disorders
dc.typeOther
dc.date.updated2022-02-07T07:14:00Z
prism.publicationNameFrontiers in Genetics
prism.volume13
dc.identifier.doi10.17863/CAM.81128
dcterms.dateAccepted2022-01-04
rioxxterms.versionofrecord10.3389/fgene.2022.816987
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.identifier.eissn1664-8021


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