13 research outputs found

    Cranial x-ray showing an asymmetrical skull, abnormal wormian bone, poor pneumatization of the sinuses, no eruption of third teeth, and a hypoplastic third tooth of the right upper jaw

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    <p><b>Copyright information:</b></p><p>Taken from "A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails"</p><p>http://www.biomedcentral.com/1471-2350/8/82</p><p>BMC Medical Genetics 2007;8():82-82.</p><p>Published online 31 Dec 2007</p><p>PMCID:PMC2241583.</p><p></p> Chest x-ray reveals a cone-shaped chest, high position of the scapular bone, aplasia of the lateral and middle thirds of the clavicle, and mild scoliosis between T6–T10. Vertebral x-ray showing mild dislocation of L5/S1. Pelvic x-ray showing a widening sacroiliac joint, wide pubic symphysis, hypoplastic pubic bone and normal hips

    Liver histology, ultrastructure, mtDNA copy number and respiratory complex activity of subjects with heterozygous mutations in <i>RRM2B</i>.

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    <p><b>(A)</b> Liver biopsy following the second episode of ALF in subject ID#11 showed mild steatosis. H&E stain. <b>(B)</b> Mitochondria at that time were normal in size with pale matrix and subtle haphazard arrangement of cristae. <b>(C</b> and <b>D)</b> Random, non-zonal macro- and microvesicular steatosis was prevalent in H&E- stained sections from the explanted livers of both subjects, confirmed with Oil red O in a frozen section (<b>C, insert).</b> Both explanted livers contained unusual necrotic/apoptotic hepatocytes with distorted contours, granular eosinophilic cytoplasm, and fat droplets. (<b>E</b>) Copy numbers of mtDNA in liver tissues from age-matched control subjects without ALF and from subjects #3 and #11 were determined by qPCR for the mitochondrial genes <i>CytB</i> and <i>Cox2</i>, normalized to the nuclear gene <i>B2M</i>. (<b>F</b>) Respiratory chain complex activities were simultaneously determined on frozen samples from explanted livers of ID#3 and ID#11 and from liver tissue of control subjects without ALF. (<b>G</b>)Total protein extracts from liver tissues from ID#11and from two age-matched controls without ALF were analyzed by SDS-PAGE and immunoblotting against p53R2, the 39kDa gene product of <i>RRM2B</i>.</p

    Isolated complex 1 deficiency in an infant with compound heterozygous mutations in <i>ACAD9</i>.

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    <p>Subject #12 harboring the variant L314P and the mutation E63X in <i>ACAD9</i> succumbed to ALF and multi-organ failure within the first 24 hours of life. Post-mortem, liver architecture was preserved without significant collapse or inflammation and with minimal steatosis (H&E, <b>A</b>). However, abnormally granular hepatocytes (H&E, <b>B</b>) and mitochondrial hyperplasia detected by immunohistochemistry against mitochondrial antigens (<b>C</b>) suggest a mitochondrial hepatopathy. Respiratory chain complex assay demonstrates reduced activity of complex 1 in frozen liver, compared to liver from controls without ALF (<b>D</b>).</p

    <i>NARS2</i> mutations identified in two unrelated families.

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    <p>(A) Pedigree of the LS06 family. Filled symbols represent affected individuals and small circles represent carrier individual. The pedigree shows autosomal recessive inheritance of compound heterozygous NARS2 variants [c.969T>A; p.Tyr323*] and [c.1142A>G; p.Asn381Ser]. (B) SDS PAGE and Western blot of control and patient II.1 muscle homogenates (10μg and 20μg of protein), samples were probed for mitochondrial respiratory chain complexes via MitoProfile total OXPHOS human WB antibody cocktail. The result showed significantly decreased amounts of mitochondrial respiratory complex I and IV. (C) SDS PAGE and Western blot of fibroblast lysates from both affected probands (II.1, II.3), their parents (I.1, I.2) and controls using anti-NARS2 antibody and anti-GAPDH antibody as loading control. The expected position of a truncated NARS2 protein product (Δ154aa) stemming from the p.Tyr323* allele is indicated with a black arrow. (D) Pedigree of the PKDF406 family. Filled symbols represent affected individuals, and a double horizontal line represents a consanguineous marriage. Alleles forming the risk haplotypes are boxed. The short tandem repeat (STR) markers, their relative map positions (Mb) according to UCSC Genome Bioinformatics build GRCh37 (hg19), and their genetic positions (cM) based on the Marshfield genetic map are shown next to the pedigree. A haplotype analysis revealed a linkage region delimited by a proximal meiotic recombination at marker D11S911 in individual IV:4 (arrowhead) and distal recombination at marker D11S4082 in individuals IV:8 and IV:9 (arrowhead).</p

    NARS2 homodimerization and RNA level: effect of the p.Val213Phe and p.Asn381Ser mutations.

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    <p>(A) Immunoprecipitates (IP) with anti-GFP antibodies from HEK293T cells transiently transfected with GFP-tagged (arrowhead) and HA-tagged NARS2 (arrow) constructs. Precipitates were immunoblotted with antibodies to the GFP and HA tags. NARS2 homodimerizes, and the p.Val213Phe mutation does not affect the dimerization process. No dimerization was detected with p.Asn381Ser NARS2 construct. (B) Steady state level for mt-tRNA<sup>Asn</sup> was assessed by Northern blot and the results were validated by two independent laboratories. 5S-rRNA probe was used as a loading control on the same membrane. In fibroblasts of patient II.1, from LS06 family, the level of mt-tRNA<sup>Asn</sup> is decreased compared to his parents and a control sample. Due to high passage number, we could not measure the mt-tRNA<sup>Asn</sup> levels in the fibroblast of patient II.3.</p
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