Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion Orly Elpeleg, Chaya.

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Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion Orly Elpeleg, Chaya Miller, Eli Hershkovitz, Maria Bitner-Glindzicz, Gili Bondi-Rubinstein, Shamima Rahman, Alistair Pagnamenta, Sharon Eshhar, Ann Saada The American Journal of Human Genetics Volume 76, Issue 6, Pages 1081-1086 (June 2005) DOI: 10.1086/430843 Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 1 Family tree, with allele sizes of the microsatellite markers in the critical region on chromosome 13. Only those individuals whose DNA was available for analysis were annotated. The region of shared homozygosity is shaded. Markers are listed in the left column, and their physical locations on the chromosome are given (in Mb) in the right column. The American Journal of Human Genetics 2005 76, 1081-1086DOI: (10.1086/430843) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 2 A, Genomic sequence of the exon 6–IVS6 junction of the SUCLA2 gene in patient II-7 and her mother, I-4 (upper and lower chromatograms, respectively). The deleted 43 nt are shown in italics, and the 14 exonic nucleotides are also capitalized. The deletion start site is indicated by an arrow. The inserted 5 nt are shown in bold and are followed by the normal IVS6 sequence. B, SUCLA2 cDNA sequence of patient II-7. A schematic representation (g) shows the exon-intron organization around the mutation site, which is shown in black. With the use of primers cF1 and cR1, two amplification products (c1 and c2) were seen, both of which skip exon 6, and transcript c2 also lacks the first 74 bp of exon 7. The splicing site of exon 5 with mid-exon 7 is indicated by an arrow. The American Journal of Human Genetics 2005 76, 1081-1086DOI: (10.1086/430843) Copyright © 2005 The American Society of Human Genetics Terms and Conditions