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角膜炎-鱼鳞病-耳聋综合征、非典型连接蛋白GJB2基因突变与外周T细胞淋巴瘤：仅是随机关联？

Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?

作者信息

Fozza Claudio, Poddie Fausto, Contini Salvatore, Galleu Antonio, Cottoni Francesca, Longinotti Maurizio, Cucca Francesco

机构信息

Institute of Hematology, University of Sassari, 07100 Sassari, Italy.

出版信息

Case Rep Hematol. 2011;2011:848461. doi: 10.1155/2011/848461. Epub 2011 Aug 10.

DOI:10.1155/2011/848461
PMID:22937313
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3420635/
Abstract

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G → A mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical c.101T → C mutation and developed a T-cell lymphoma so far never described in this group of patients.

摘要

角膜炎-鱼鳞病-耳聋（KID）综合征是一种罕见的先天性疾病，其特征为皮肤病变、神经性听力减退和角膜炎，通常由涉及连接蛋白26基因的c.148G→A突变引起。我们报告了一名患有KID综合征的患者，该患者表现出非典型的c.101T→C突变，并发生了T细胞淋巴瘤，这在该组患者中尚未有过描述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a32e/3420635/f9f7191e5b51/CRIM.HEMATOLOGY2011-848461.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a32e/3420635/f9f7191e5b51/CRIM.HEMATOLOGY2011-848461.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a32e/3420635/f9f7191e5b51/CRIM.HEMATOLOGY2011-848461.001.jpg

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本文引用的文献

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Ear Hear. 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad.
2
Peripheral T-cell non-Hodgkin's lymphoma.外周T细胞非霍奇金淋巴瘤
Hematol Oncol Clin North Am. 2008 Oct;22(5):997-1005, x. doi: 10.1016/j.hoc.2008.07.010.
3
Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.
角膜炎-鱼鳞病-耳聋综合征：14例患者的疾病表现及连接蛋白26（GJB2）突变谱
Br J Dermatol. 2007 May;156(5):1015-9. doi: 10.1111/j.1365-2133.2007.07806.x. Epub 2007 Mar 23.
4
GJB2: the spectrum of deafness-causing allele variants and their phenotype.GJB2：致聋等位基因变异谱及其表型
Hum Mutat. 2004 Oct;24(4):305-11. doi: 10.1002/humu.20084.
5
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.儿童鱼鳞病-耳聋综合征的遗传异质性：一名患有儿童鱼鳞病-耳聋综合征和先天性无毛症患者中Cx30基因（GJB6）突变的鉴定。
J Invest Dermatol. 2004 May;122(5):1108-13. doi: 10.1111/j.0022-202X.2004.22518.x.
6
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7
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9
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J Cell Biol. 1993 Sep;122(5):1103-17. doi: 10.1083/jcb.122.5.1103.