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Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Myoclonus, ataxia with relatively preserved cognition: Common causes: Unverricht–Lundborg disease (Baltic myoclonus).Myoclonic epilepsy with ragged red fibers (MERRF).Postanoxic myoclonus.Spinocerebellar degenerations.Uncommon causes: CD.MSA.GM2 gangliosidosis.NCL.DRPLA.North Sea progressive myoclonus epilepsy (GOSR2 mutations).Action myoclonus renal failure syndrome.MEAK syndrome (KCNC1 mutations).SCA14 (PRKCG mutations).POLG mutations.PRICKLE1 mutations.ASAH1 mutations.KCTD7 mutations.LMNB2 mutations.SLC25A46 mutations.
Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy
Published in Ophthalmic Genetics, 2020
Jeeyun Ahn, John Chiang, Michael B. Gorin
Most of the genes identified encode proteins that have essential roles in the phototransduction cascade, visual cycle, ciliary structure and transport, and the maintenance of retinal homeostasis (2). Identifying the genes and the affected pathways in rod-cone dystrophy have not only allowed clinicians to understand the underlying pathogenesis behind this subtype of IRD but also given insight into the complex molecular pathways involved in the various interactions between photoreceptors and the RPE and the maintenance of these cells within the retina. Recent advances in genetic analysis techniques have enabled the applications of panel-based targeted sequencing and exome sequencing in identifying novel genetic causes resulting in overall improvement diagnostic yield (3,4). In this case report, we present a rod-cone dystrophy patient with a mutation in SLC4A7, adding to the list of previous solute carrier genes implicated in retinal disorders (SLC24A1, SLC7A14, SLC25A46) (5).
Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome
Published in Ophthalmic Genetics, 2019
Sung Eun Park, Jihei Sara Lee, Seung-Tae Lee, Hye Young Kim, Sueng-Han Han, Jinu Han
DNA of the proband was captured with custom-targeted sequencing panel (Celemics, Seoul, Korea) and sequenced on Illumina NextSeq550 (Illumina Inc, San Diego, USA). Our customized-targeted panel included 429 genes associated with various ophthalmic disorders including hereditary optic neuropathy (OPA1, OPA3, MFN2, WFS1, RTN4IP1, SLC25A46, TMEM126A, UCHL1, ACO2, NBAS, NR2F1, YME1L1, NDUFS1, DNAJC19, CISD2, FXN, AUH, C12orf65, POLG, SPG7, AFG3L2, C19orf12, TIMM8A). Briefly, raw sequence data were mapped to GRCh37 (hg19) using the Burrow-Wheeler Aligner algorithm, followed by removal of duplicate reads, base quality recalibration, and variant calling using the Genome Analysis Toolkit v3.8 as described previously (3). Targeted next-generation sequencing revealed a novel heterozygous NR2F1 c.513C>G;p.Tyr171Ter nonsense variant, and this variant was absent from various population genomic databases (1000 Genome Project, Exome Variant Server, Exome Aggregation Consortium or Genome Aggregation Database, accessed in September 2018). The c.513C>G variant was predicted to be deleterious by in silico prediction programs (Combined Annotation Dependent Depletion, CADD:37, Functional Analysis through Hidden Markov Model, FATHMM:0.9857). This variant was considered ‘likely pathogenic’ according to the guideline of American College of Medical Genetics and Association for Molecular Pathology (4). This c.513C>G variant is located between DNA-binding domain and ligand-binding domain of NR2F1 (Figure 2b). The parental testing could not be performed.