Literature DB >> 20463673

Founder mutations in xeroderma pigmentosum.

Deborah Tamura1, John J DiGiovanna, Kenneth H Kraemer.   

Abstract

In this issue, Soufir et al. report a founder mutation in the XPC DNA repair gene in 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeria, Morocco, and Tunisia) of northern Africa. These patients have a high frequency of skin cancer. The presence of this founder mutation provides an opportunity for genetic counseling and early diagnosis of XP.

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Year:  2010        PMID： 20463673      PMCID： PMC3486739          DOI： 10.1038/jid.2010.76

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


  12 in total

1.  Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population.

Authors:  Yuko Hirai; Yoshiaki Kodama; Shin-Ichi Moriwaki; Asao Noda; Harry M Cullings; Donald G Macphee; Kazunori Kodama; Kiyohiko Mabuchi; Kenneth H Kraemer; Charles E Land; Nori Nakamura
Journal:  Mutat Res       Date:  2006-08-14       Impact factor: 2.433

2.  Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type.

Authors:  Taro Masaki; Ryusuke Ono; Miki Tanioka; Yoko Funasaka; Tohru Nagano; Shinichi Moriwaki; Chikako Nishigori
Journal:  J Dermatol Sci       Date:  2008-08-13       Impact factor: 4.563

Review 3.  Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.

Authors:  K H Kraemer; N J Patronas; R Schiffmann; B P Brooks; D Tamura; J J DiGiovanna
Journal:  Neuroscience       Date:  2007-02-01       Impact factor: 3.590

Review 4.  The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.

Authors:  A R Lehmann
Journal:  Genes Dev       Date:  2001-01-01       Impact factor: 11.361

5.  Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.

Authors:  Sikandar G Khan; Kyu-Seon Oh; Tala Shahlavi; Takahiro Ueda; David B Busch; Hiroki Inui; Steffen Emmert; Kyoko Imoto; Vanessa Muniz-Medina; Carl C Baker; John J DiGiovanna; Deborah Schmidt; Arash Khadavi; Ahmet Metin; Engin Gozukara; Hanoch Slor; Alain Sarasin; Kenneth H Kraemer
Journal:  Carcinogenesis       Date:  2005-08-04       Impact factor: 4.944

6.  A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.

Authors:  E M Gozukara; S G Khan; A Metin; S Emmert; D B Busch; T Shahlavi; D M Coleman; M Miller; N Chinsomboon; M Stefanini; K H Kraemer
Journal:  J Invest Dermatol       Date:  2001-08       Impact factor: 8.551

7.  XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.

Authors:  Sikandar G Khan; Kyu-Seon Oh; Steffen Emmert; Kyoko Imoto; Deborah Tamura; John J Digiovanna; Tala Shahlavi; Najealicka Armstrong; Carl C Baker; Marcy Neuburg; Chris Zalewski; Carmen Brewer; Edythe Wiggs; Raphael Schiffmann; Kenneth H Kraemer
Journal:  DNA Repair (Amst)       Date:  2008-11-14

8.  A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.

Authors:  Nadem Soufir; Cecile Ged; Agnes Bourillon; Frederic Austerlitz; Cécile Chemin; Anne Stary; Jacques Armier; Daniele Pham; Khadija Khadir; Joelle Roume; Smail Hadj-Rabia; Bakar Bouadjar; Alain Taieb; Hubert de Verneuil; Hakima Benchiki; Bernard Grandchamp; Alain Sarasin
Journal:  J Invest Dermatol       Date:  2010-01-07       Impact factor: 8.551

9.  Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.

Authors:  Wim J Kleijer; Vincent Laugel; Mark Berneburg; Tiziana Nardo; Heather Fawcett; Alexei Gratchev; Nicolaas G J Jaspers; Alain Sarasin; Miria Stefanini; Alan R Lehmann
Journal:  DNA Repair (Amst)       Date:  2008-03-10

10.  Newborn screening: toward a uniform screening panel and system.

Authors: 
Journal:  Genet Med       Date:  2006-05       Impact factor: 8.822
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  5 in total

Review 1.  Clinical utility gene card for: Xeroderma pigmentosum.

Authors:  Steffen Schubert; Janin Lehmann; Limor Kalfon; Hanoch Slor; Tzipora C Falik-Zaccai; Steffen Emmert
Journal:  Eur J Hum Genet       Date:  2013-10-09       Impact factor: 4.246

2.  Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.

Authors:  Zineb Kindil; Mohamed Amine Senhaji; Amina Bakhchane; Hicham Charoute; Soumia Chihab; Sellama Nadifi; Abdelhamid Barakat
Journal:  BMC Res Notes       Date:  2017-12-06

3.  Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins.

Authors:  Eman Rabie; Khalda Amr; Suher Zada; Heba El-Sayed; Mohamad El Darouti; Ghada El-Kamah
Journal:  Genes (Basel)       Date:  2021-02-20       Impact factor: 4.096

4.  Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Authors:  Lilia Romdhane; Rym Kefi; Hela Azaiez; Nizar Ben Halim; Koussay Dellagi; Sonia Abdelhak
Journal:  Orphanet J Rare Dis       Date:  2012-08-21       Impact factor: 4.123

Review 5.  Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review.

Authors:  Rui Yang; Qingtao Kong; Yuanyuan Duan; Weiwei Li; Hong Sang
Journal:  BMC Med Genet       Date:  2020-03-30       Impact factor: 2.103
  5 in total

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