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Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy 

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Presentation on theme: "Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy "— Presentation transcript:

1 Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy  John M. Graham, Kwame Anyane-Yeboa, Anja Raams, Esther Appeldoorn, Wim J. Kleijer, Victor H. Garritsen, David Busch, Terri G. Edersheim, Nicolaas G.J. Jaspers  The American Journal of Human Genetics  Volume 69, Issue 2, Pages (August 2001) DOI: /321295 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Clinical appearance of patient with COFS syndrome. Patient is shown at age 3 wk (left) and at age 9 mo (right). The American Journal of Human Genetics  , DOI: ( /321295) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

3 Figure 2 DNA-repair characteristics of patient's fibroblasts (black symbols) and of normal C5RO cells (white symbols). Standard-error bars are shown wherever they exceed symbol size. A, UV-survival curves, compared to typical XP-A and XP-C strains measured in a separate experiment. B, GG-NER activity in mononuclear cells of patient (black bars) mononuclear cells from fusion partner (representative of XP group B, D, or G) (white bars), and heterokaryons in fusion experiments (gray bars), measured as UDS and represented as a percentage of that in normal C5RO cells tested in the same experiment. C, Residual rates of overall DNA synthesis 16 h after exposure to various UV doses. Typical responses of XP-A and CS-B cells are from a separate experiment. The American Journal of Human Genetics  , DOI: ( /321295) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Molecular genetic analysis of XPD gene. A, Restriction-enzyme fingerprinting of 3′ cDNA fragment 4 (shown in panel D), digested with RsaI-HhaI. Red arrows indicate new bands appearing in patient's DNA (lane P), compared to normal sequence (lane N). B, Relevant parts of XPD sequence readout. Both mutations found were heterozygous. C, Conservation of XPD amino acids around mutation D681N. Rodent = Mus musculus and Cricetulus griseus; fish = Xiphophorous maculatus. D, Bar representation of XPD protein with seven helicase domains, mutations found in the proband (black) and in two other patients in XP-D who have symptoms of CS (gray) (from Lehmann 2001). The American Journal of Human Genetics  , DOI: ( /321295) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

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