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Figure Cerebral MRI and molecular and enzymatic analysis

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1 Figure Cerebral MRI and molecular and enzymatic analysis
Cerebral MRI and molecular and enzymatic analysis Mild vermian cerebellar atrophy (A, axial FLAIR w.i.); bilateral dentate hyperintensities (white arrow in B, axial FLAIR w.i., and D, sagittal FLAIR w.i); and supratentorial white matter hyperintensities (white arrow in C, axial FLAIR w.i). (E) Pedigree showing segregation of the disease with mutation c.940+5G>C causing the in-frame skipping of exon 7 and with mutation c.2135C>T causing the p.(Pro712Leu) missense change (P712L). Analysis of reverse transcription PCR (RT-PCR) products of the patient skin fibroblasts (F): the c.940+5G>C mutation (SplicePort score reduction from 1.17 to 0.21) affects exon 7 splicing and results in an abnormal RT-PCR fragment of 980 bp (arrow), whereas only the normal product of 1,085 bp is seen for control fibroblasts. Sequence of RT-PCR products (G): skipping of exon 7 leading to an in-frame deletion of 35 amino acids (p.[Gly279_Glu313del]). (H) Sanger sequencing results of parents and patients: Both patients are compound heterozygous for the mutations c.940+5G>C and p.(Pro712Leu), the mother (I.1) is a heterozygous carrier for the c.940+5G>C mutation, and the father (I.2) is a heterozygous carrier for the p.(Pro712Leu) mutation. (I) Mitochondrial aconitase activity is measured for 10 minutes (citrate injection), followed by isocitrate dehydrogenase activity for 2 minutes (isocitrate injection) through NADPH production in fibroblasts. Patient II.4 aconitase activity (red line) is reduced to about 50% of controls (black line), whereas isocitrate dehydrogenase activity, used for normalization, is similar to controls. (J): Predicted location of mutations on the ACO2 enzyme and substrate and cofactor binding sites. Stripe box: mitochondrial targeting signal; *Substrate binding sites; ©Iron-sulfur binding sites; highlighted mutations: present report; boxed (dotted) mutations: optic atrophy 9 (OPA9) phenotype; underlined mutations: infantile cerebellar-retinal degeneration phenotype (ICRD). FLAIR = fluid-attenuated inversion recovery. Cecilia Marelli et al. Neurol Genet 2018;4:e225 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology

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Neurology Resident and Fellow Section

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Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

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