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A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.

作者信息

Ben Rekaya Mariem, Messaoud Olfa, Mebazaa Amel, Riahi Olfa, Azaiez Hela, Kefi Rim, Zghal Mohamed, Boubaker Samir, Amouri Ahlem, Ben Osman-Dhahri Amel, Abdelhak Sonia, Mokni Mourad

机构信息

Molecular Investigation of Genetic Orphan Diseases Research Unit, Pasteur Institute of Tunis, 13 Place Pasteur, BP 74, 1002 Tunis Belvedere, Tunisia.

出版信息

J Genet. 2011 Dec;90(3):483-7. doi: 10.1007/s12041-011-0101-y.

DOI:10.1007/s12041-011-0101-y
PMID:22227937
Abstract
摘要

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A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.一名着色性干皮病V型突尼斯患者中的新型POLH基因突变：表型-基因型相关性
J Genet. 2011 Dec;90(3):483-7. doi: 10.1007/s12041-011-0101-y.
2
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type.鉴定一个中国 XP-V 变异型家系中 POLH 的新型无义突变。
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3
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.23 例着色性干皮病变异型患者表型/基因型相关性分析揭示 12 种新的 POLH 致病突变。
Hum Mutat. 2014 Jan;35(1):117-28. doi: 10.1002/humu.22462.
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Xeroderma pigmentosum: neck lymph node metastasis of a squamous cell carcinoma of the skin treated with cetuximab.着色性干皮病：西妥昔单抗治疗皮肤鳞状细胞癌颈部淋巴结转移
Eur J Dermatol. 2009 Mar-Apr;19(2):163-5. doi: 10.1684/ejd.2008.0574. Epub 2008 Dec 23.
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A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.突尼斯着色性干皮病变异型中的一种奠基者大片段缺失突变：对分子诊断和治疗的意义。
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Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.一名年轻患者被诊断为着色性干皮病变异型，其POLH基因存在两个新突变。
Am J Med Genet A. 2017 Sep;173(9):2511-2516. doi: 10.1002/ajmg.a.38340. Epub 2017 Jul 8.
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[Multiple melanoma in xeroderma pigmentosum].着色性干皮病中的多发性黑色素瘤
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Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type.对被诊断为着色性干皮病变异型的日本患者的DNA聚合酶η基因进行分子分析。
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Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.鉴定一个突尼斯家族中着色性干皮病互补组 A 的主要神经表型表达。
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Eur J Cancer. 2009 Dec;45(18):3228-36. doi: 10.1016/j.ejca.2009.04.034. Epub 2009 May 26.

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Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum.全外显子组测序可诊断变异型着色性干皮病。
Front Genet. 2019 May 24;10:495. doi: 10.3389/fgene.2019.00495. eCollection 2019.
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Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman.在一名77岁女性中诊断出的着色性干皮病变异亚型。
JAAD Case Rep. 2018 Nov 14;4(10):1074-1076. doi: 10.1016/j.jdcr.2018.08.013. eCollection 2018 Nov.
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Genetics and genomic medicine in Tunisia.突尼斯的遗传学与基因组医学。

本文引用的文献

1
Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.阿拉伯裔非裔人群着色性干皮病 A 组患者突变谱遗传同质性。
Int J Dermatol. 2010 May;49(5):544-8. doi: 10.1111/j.1365-4632.2010.04421.x.
2
Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.鉴定一个突尼斯家族中着色性干皮病互补组 A 的主要神经表型表达。
Br J Dermatol. 2010 Apr;162(4):883-6. doi: 10.1111/j.1365-2133.2010.09646.x. Epub 2010 Feb 25.
3
High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.
Mol Genet Genomic Med. 2018 Mar;6(2):134-159. doi: 10.1002/mgg3.392.
4
A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.突尼斯着色性干皮病变异型中的一种奠基者大片段缺失突变：对分子诊断和治疗的意义。
Biomed Res Int. 2014;2014:256245. doi: 10.1155/2014/256245. Epub 2014 May 4.
5
Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology.全外显子组测序能够快速确定着色性干皮病的分子病因。
PLoS One. 2013 Jun 3;8(6):e64692. doi: 10.1371/journal.pone.0064692. Print 2014.
6
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type.鉴定一个中国 XP-V 变异型家系中 POLH 的新型无义突变。
Int J Med Sci. 2013 Apr 21;10(6):766-70. doi: 10.7150/ijms.6095. Print 2013.
在突尼斯，V548A fs X572 XPC 突变的高频率：对分子诊断的影响。
J Hum Genet. 2009 Jul;54(7):426-9. doi: 10.1038/jhg.2009.50. Epub 2009 May 29.
4
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type.
J Dermatol Sci. 2008 Nov;52(2):144-8. doi: 10.1016/j.jdermsci.2008.07.001. Epub 2008 Aug 13.
5
Xeroderma pigmentosum-variant patients from America, Europe, and Asia.来自美国、欧洲和亚洲的着色性干皮病变异型患者。
J Invest Dermatol. 2008 Aug;128(8):2055-68. doi: 10.1038/jid.2008.48. Epub 2008 Mar 27.
6
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.西欧DNA修复缺陷疾病的发病率：着色性干皮病、科凯恩综合征和毛发硫营养不良。
DNA Repair (Amst). 2008 May 3;7(5):744-50. doi: 10.1016/j.dnarep.2008.01.014. Epub 2008 Mar 10.
7
What a difference a decade makes: insights into translesion DNA synthesis.十年间变化如此之大：对跨损伤DNA合成的见解。
Proc Natl Acad Sci U S A. 2007 Oct 2;104(40):15591-8. doi: 10.1073/pnas.0704219104. Epub 2007 Sep 26.
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[Epidemio-clinical profile of skin cancer in southern Tunisia].[突尼斯南部皮肤癌的流行病学-临床概况]
Tunis Med. 2007 Jun;85(6):505-8.
9
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type.对被诊断为着色性干皮病变异型的日本患者的DNA聚合酶η基因进行分子分析。
J Invest Dermatol. 2007 Jul;127(7):1745-51. doi: 10.1038/sj.jid.5700759. Epub 2007 Mar 8.
10
Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population.在XPA DNA修复基因中携带始祖突变的杂合个体占日本人口的近1%。
Mutat Res. 2006 Oct 10;601(1-2):171-8. doi: 10.1016/j.mrfmmm.2006.06.010. Epub 2006 Aug 14.