Recurrent CYLD Nonsense Mutation Associated With a Severe, Disfiguring Phenotype in an African American Family With Multiple Familial Trichoepithelioma.

Linos K; Schwartz J; Kazakov DV; Vanecek T; Carlson JA

首页> 外文期刊>American Journal of Dermatopathology >Recurrent CYLD Nonsense Mutation Associated With a Severe, Disfiguring Phenotype in an African American Family With Multiple Familial Trichoepithelioma.

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Recurrent CYLD Nonsense Mutation Associated With a Severe, Disfiguring Phenotype in an African American Family With Multiple Familial Trichoepithelioma.

机译：与多发家族性毛发上皮瘤的非洲裔美国家庭中的严重，毁容性表型相关的复发性CYLD无意义突变。

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Recently, Kazakov et al perfonned a clinicopathologic and genotypic analysis on a series of 16 patients suffering from multiple (familial) trichoepitheliomas (MFT: MM 601606) and found mutations in the CYLD gene in 46%. Based on the frequent presence of CYLD mutations in MFT, it, along with familial cylindroma-tosis (FC: MM 132700) are considered 2 phenotypic ends within the spectrum of Brooke-Spiegler syndrome (BSS: MIM 605041), whose patients develop cylin-dromas, spiradenomas, spiradenocylin-dromas, and trichoepitheliomas. Herein, we document another MFT kindred with a severe disfiguring phenotype associated with a recurrent CYLD gerrnline nonsense mutation (c.1112 OA/p.S371X) previously reported in 6 unrelated patients: 2 with MFT, 3 with FC, and 1 whose phenotype was not reported.

机译：最近，Kazakov等人对一系列16例患有多发性（家族性）毛状上皮瘤（MFT：MM 601606）的患者进行了临床病理和基因型分析，发现CYLD基因突变的比例为46％。基于MFT中CYLD突变的频繁出现，它与家族性圆柱状增生症（FC：MM 132700）被认为是Brooke-Spiegler综合征（BSS：MIM 605041）谱中的2个表型末端，其患者会发展为cylin- dromas，螺旋体瘤，spiradenocylin-dromas和毛状上皮瘤。在本文中，我们记录了另一种MFT，该MFT伴有严重的毁容性表型，并伴有复发的CYLD Gerrnline无意义突变（c.1112 OA / p.S371X），先前在6例无关患者中报告：2例MFT，3例FC和1例表型为没有报道。

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《American Journal of Dermatopathology》 |2011年第6期|共3页
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Linos K; Schwartz J; Kazakov DV; Vanecek T; Carlson JA;
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中图分类皮肤病学与性病学;
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1. Recurrent CYLD Nonsense Mutation Associated With a Severe, Disfiguring Phenotype in an African American Family With Multiple Familial Trichoepithelioma. [J] . Linos K, Schwartz J, Kazakov DV, American Journal of Dermatopathology . 2011,第6期

机译：与多发家族性毛发上皮瘤的非洲裔美国家庭中的严重，毁容性表型相关的复发性CYLD无意义突变。
2. Novel substitution and frameshift mutations of CYLD in two Chinese families with multiple familial trichoepithelioma. [J] . Liang YH, Sun CS, Ye XY, British Journal of Dermatology . 2008,第5期

机译：CYLD在两个中国家庭多发性家族性上皮上皮瘤的新型替代和移码突变。
3. A novel frameshift mutation in the cylindromatosis (CYLD) gene in a Chinese family with multiple familial trichoepithelioma. [J] . J W Wu, S X Xiao, J Huo, Archives of dermatological research. . 2014,第9期

机译：中国多发性家族性毛状上皮细胞瘤家族中圆柱体增生（CYLD）基因的新型移码突变。
4. FAMILIAL AMYLOIDOTIC POLYNEUROPATHY WITH SEVERE RENAL INVOLVEMENT IN ASSOCIATION WITH TRANSTHYRETIN Gly47G!u IN DUTCH, BRITISH AND AMERICAN FAMILIES [C] . E.B. Haagsma, P.N. Hawkins, M.D. Benson, International Symposium on Amyloidosis . 2005

机译：家族性淀粉样功能与严重肾脏参与与Transthyretin Gly47G相关的肾脏转化性疾病！U在荷兰语，英美和美国家庭
5. Reconfiguring the American family: Alternate paradigms in African American and Latina familial configurations. [D] . Wright, Mary Elizabeth. 2002

机译：重新配置美国家庭：非裔美国人和拉丁裔家庭结构的替代范例。
6. The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1 Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene [O] . Katalin Farkas, Barbara Kocsis Deák, Laura Cubells Sánchez, 2016

机译：CYLD p.R758X全球复发性无意义突变在多发性家族性毛发上皮细胞瘤1型布鲁克-斯皮格勒综合征和家族性脊柱侧凸病患者中检测到代表该基因的突变热点
7. The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene [O] . Farkas Katalin, Deák Kocsis Barbara, Sánchez Cubells Laura, 2016

机译：CYLD p.R758X全球复发性无意义突变在多发性家族性毛细支上皮瘤1型，布鲁克-斯皮格勒综合征和家族性脊柱侧凸病患者中检测到，代表该基因的突变热点

Recurrent CYLD Nonsense Mutation Associated With a Severe, Disfiguring Phenotype in an African American Family With Multiple Familial Trichoepithelioma.

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