Literature DB >> 14569115

In vivo reversion to normal of inherited mutations in humans.

R Hirschhorn1.   

Abstract

There are increasing reports of multiple different types of somatic mosaicism detected in patients with inherited and non-inherited disorders. The characteristics of several of the major types of mosaicism will be outlined, and contrasted with somatic mosaicism, which is the focus of this article. This review examines examples of somatic mosaicism due to differences in DNA sequence arising from in vivo site specific reversion to normal of inherited mutations in humans. While several known mechanisms of reversion are evident in a number of these examples, they are not in some others. The possible significance of the role of selection, particularly in view of recent results of gene therapy, is discussed.

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Year:  2003        PMID： 14569115      PMCID： PMC1735296          DOI： 10.1136/jmg.40.10.721

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  48 in total

1.  Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.

Authors:  T Wada; S H Schurman; M Otsu; E K Garabedian; H D Ochs; D L Nelson; F Candotti
Journal:  Proc Natl Acad Sci U S A       Date:  2001-07-10       Impact factor: 11.205

2.  Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy.

Authors:  Francisco X Arredondo-Vega; Ines Santisteban; Eva Richard; Pawan Bali; Majed Koleilat; Michael Loubser; Abdulaziz Al-Ghonaium; Mariam Al-Helali; Michael S Hershfield
Journal:  Blood       Date:  2002-02-01       Impact factor: 22.113

3.  Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex.

Authors:  Petra H L Schuilenga-Hut; Hans Scheffer; Hendri H Pas; Miranda Nijenhuis; Charles H C M Buys; Marcel F Jonkman
Journal:  J Invest Dermatol       Date:  2002-04       Impact factor: 8.551

4.  T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation.

Authors:  T Ariga; N Oda; K Yamaguchi; N Kawamura; H Kikuta; S Taniuchi; Y Kobayashi; K Terada; H Ikeda; M S Hershfield; K Kobayashi; Y Sakiyama
Journal:  Blood       Date:  2001-05-01       Impact factor: 22.113

Review 5.  Tyrosinemia: a review.

Authors:  P A Russo; G A Mitchell; R M Tanguay
Journal:  Pediatr Dev Pathol       Date:  2001 May-Jun

6.  Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome.

Authors:  T Ariga; T Kondoh; K Yamaguchi; M Yamada; S Sasaki; D L Nelson; H Ikeda; K Kobayashi; H Moriuchi; Y Sakiyama
Journal:  J Immunol       Date:  2001-04-15       Impact factor: 5.422

Review 7.  Skewed X inactivation in X-linked disorders.

Authors:  I B Van den Veyver
Journal:  Semin Reprod Med       Date:  2001-06       Impact factor: 1.303

8.  Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy.

Authors:  Salima Hacein-Bey-Abina; Françoise Le Deist; Frédérique Carlier; Cécile Bouneaud; Christophe Hue; Jean-Pierre De Villartay; Adrian J Thrasher; Nicolas Wulffraat; Ricardo Sorensen; Sophie Dupuis-Girod; Alain Fischer; E Graham Davies; Wietse Kuis; Lilly Leiva; Marina Cavazzana-Calvo
Journal:  N Engl J Med       Date:  2002-04-18       Impact factor: 91.245

9.  Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.

Authors:  N A Ellis; S Ciocci; J German
Journal:  Hum Genet       Date:  2001-02       Impact factor: 4.132

10.  Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement.

Authors:  Alessandro Aiuti; Sergio Vai; Alessandra Mortellaro; Giulia Casorati; Francesca Ficara; Grazia Andolfi; Giuliana Ferrari; Antonella Tabucchi; Filippo Carlucci; Hans D Ochs; Luigi D Notarangelo; Maria Grazia Roncarolo; Claudio Bordignon
Journal:  Nat Med       Date:  2002-05       Impact factor: 53.440
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  65 in total

1.  Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

Authors:  Marjolijn C J Jongmans; Eugene T P Verwiel; Yvonne Heijdra; Tom Vulliamy; Eveline J Kamping; Jayne Y Hehir-Kwa; Ernie M H F Bongers; Rolph Pfundt; Liesbeth van Emst; Frank N van Leeuwen; Koen L I van Gassen; Ad Geurts van Kessel; Inderjeet Dokal; Nicoline Hoogerbrugge; Marjolijn J L Ligtenberg; Roland P Kuiper
Journal:  Am J Hum Genet       Date:  2012-02-16       Impact factor: 11.025

Review 2.  Revertant mosaicism in skin: natural gene therapy.

Authors:  Joey E Lai-Cheong; John A McGrath; Jouni Uitto
Journal:  Trends Mol Med       Date:  2010-12-29       Impact factor: 11.951

3.  Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis.

Authors:  Etresia van Dyk; Pieter J Pretorius
Journal:  J Inherit Metab Dis       Date:  2011-10-15       Impact factor: 4.982

4.  Chromothriptic cure of WHIM syndrome.

Authors:  David H McDermott; Ji-Liang Gao; Qian Liu; Marie Siwicki; Craig Martens; Paejonette Jacobs; Daniel Velez; Erin Yim; Christine R Bryke; Nancy Hsu; Zunyan Dai; Martha M Marquesen; Elina Stregevsky; Nana Kwatemaa; Narda Theobald; Debra A Long Priel; Stefania Pittaluga; Mark A Raffeld; Katherine R Calvo; Irina Maric; Ronan Desmond; Kevin L Holmes; Douglas B Kuhns; Karl Balabanian; Françoise Bachelerie; Stephen F Porcella; Harry L Malech; Philip M Murphy
Journal:  Cell       Date:  2015-02-05       Impact factor: 41.582

5.  Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype.

Authors:  M Moncada-Vélez; A Vélez-Ortega; J Orrego; I Santisteban; J Jagadeesh; M Olivares; N Olaya; M Hershfield; F Candotti; J Franco
Journal:  Scand J Immunol       Date:  2011-11       Impact factor: 3.487

6.  Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).

Authors:  Gulbu Uzel; Emilia Tng; Sergio D Rosenzweig; Amy P Hsu; Jacqueline M Shaw; Mitchell E Horwitz; Gilda F Linton; Stacie M Anderson; Martha R Kirby; Jaõ B Oliveira; Margaret R Brown; Thomas A Fleisher; S K Alex Law; Steven M Holland
Journal:  Blood       Date:  2007-09-17       Impact factor: 22.113

7.  Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.

Authors:  Y T Bliksrud; E Brodtkorb; P A Andresen; I E T van den Berg; E A Kvittingen
Journal:  J Mol Med (Berl)       Date:  2005-03-10       Impact factor: 4.599

8.  In vivo correction of ZAP-70 immunodeficiency by intrathymic gene transfer.

Authors:  Oumeya Adjali; Gilles Marodon; Marcos Steinberg; Cédric Mongellaz; Véronique Thomas-Vaslin; Chantal Jacquet; Naomi Taylor; David Klatzmann
Journal:  J Clin Invest       Date:  2005-08       Impact factor: 14.808

9.  Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.

Authors:  Anna M G Pasmooij; Hendri H Pas; Maria C Bolling; Marcel F Jonkman
Journal:  J Clin Invest       Date:  2007-05       Impact factor: 14.808

10.  Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient.

Authors:  Ping Liu; Ines Santisteban; Lauri M Burroughs; Hans D Ochs; Troy R Torgerson; Michael S Hershfield; David J Rawlings; Andrew M Scharenberg
Journal:  Clin Immunol       Date:  2008-10-25       Impact factor: 3.969
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