ArticleMolecular neurobiology2017
Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging.
Article in Molecular neurobiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 30 citations in OpenAlex.
- Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.BMC genomics · 2024Article
- Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration.Brain sciences · 2022Article
- Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.BMC medical genetics · 2020Article
- A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia.BMC medical genetics · 2019Article
- Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst.Medicine · 2019Article
- PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.Journal of human genetics · 2019Article
- PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.Frontiers in neurology · 2018Review
- Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.Molecular psychiatry · 2017Article
- Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.Scientific reports · 2017Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurodegeneration with brain iron accumulation comprises a heterogeneous group of disorders characterized clinically by progressive motor dysfunction. Accurate identification of de novo and rare inherited mutations is important for determining causative genes of undiagnosed neurological diseases. In the present study, we report a unique case with cerebellar ataxia symptoms and social communication difficulties in an intermarriage family. MRI showed a marked cerebellar atrophy and the "eye-of-the-tiger"-like sign in the medial globus pallidus. Potential genetic defects were screened by whole-exome sequencing (WES) for the patient and four additional family members. A previously undescribed de novo missense mutation (c.1634A>G, p.K545R) in the exon 12 of the PLA2G6 gene was identified. A second rare variant c.1077G>A at the end of exon 7 was also identified, which was inherited from the mother, and resulted in a frame-shift mutation (c.1074_1077del.GTCG) due to an alternative splicing. In conclusion, the identification of the "eye-of-the-tiger"-like sign in the globus pallidus of the patient expands the phenotypic spectrum of PLA2G6-associated disorders and reveals its value in differential diagnosis of PLA2G6-associated disorders.
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