A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue

Yg, Zuo; Xu, Yujin; B, Wang; Yh, Liu; Qu, Tao; Fang, Kai; Ho, M. G.

doi:10.1111/j.1365-2133.2007.08081.x

Cited by 26 publications

(18 citation statements)

References 8 publications

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“…Only a quarter (27%) of these are recurrent mutations [Sima et al, 2010;Hu et al, 2003;Grossmann et al, 2013;Saggar et al, 2008;Kazakov et al, 2009]. In general, missense mutations of the CYLD gene have been associated with less phenotypic diversity that other kinds of mutations: three quarters (73%) have been reported in MFT1 only (Figure 4) [Nagy et al, 2012;Zheng et al, 2004;Almeida et al, 2008;Espana et al, 2007;Wang et al, 2010;Zuo et al, 2007]. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 10 Splice-site mutations account for 11% of all mutations (Figure 2).…”

Section: Variants Of the Cyld Genementioning

confidence: 99%

“…However, the majority of the published mutations are reported for patients from the UK, USA and China [Bignell et al, 2000;Lv et al, 2008;Ying et al, 2012;Liang et al, 2008;Zheng et al, 2004;Chen et al, 2011;Wang et al, 2010;Zuo et al, 2007]. Recurrent mutations have been detected in patients living in geographically distant regions: the c.1112C/A p.S371X nonsense mutation was identified in Irish, African American, Slovakian and Chinese patients [Bowen et al, 2005;Linos et al, 2011;Lv et al, 2008 ; 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 11 Kacerovska et al, 2013] and the c.2806C/T p.R936X nonsense mutation was detected in Canadian, American, Anglo-Saxon and Hungarian patients [Bignell et al, 2000;Bowen et al, 2005;Nagy et al, 2013].…”

Section: Ethnic Variationmentioning

confidence: 99%

“…The clinical phenotype of MFT1 was observed mostly in individuals from China but also in African, AfroAmerican, Taiwanese, Algerian, Turkish, Italian and Spanish patients [Lv et al, 2008;Kacerovska et al, 2013;Liang et al, 2008;Zheng et al, 2004;Chen et al, 2011;Wang et al, 2010;Zuo et al, 2007]. The majority of patients exhibiting the FC clinical variant were from the UK and the USA, but some patients were from Italy and Ireland [Bignell et al, 2000;Bowen et al, 2005;Nasti et al, 2009].…”

Section: Ethnic Variationmentioning

confidence: 99%

“…Missense mutations of the CYLD gene are more frequently associated only with MFT1 (73%) than the other types of mutations [Sima et al, 2010;Hu et al, 2003;Grossmann et al, 2013;Linos et al, 2011;Lv et al, 2008;Kacerovska et al, 2013;Saggar et al, 2008;Van den Ouweland et al, 2011;Kazakov et al, 2009;Nagy et al, 2012;Zheng et al, 2004;Almeida et al, 2008;Espana et al, 2007;Wang et al, 2010;Zuo et al, 2007]. Missense mutations also lead to the development of milder phenotype [Nagy et al, 2012].…”

Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

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Phenotype–genotype correlations for clinical variants caused by CYLD mutations

Nagy

Farkas

Kemény

et al. 2015

European Journal of Medical Genetics

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Brooke-Spiegler syndrome (BSS; OMIM 605041) is an autosomal dominant condition characterized by skin appendageal neoplasms including cylindromas, trichoepitheliomas, and/or spiradenomas. In 1996, the gene locus for BSS was mapped to 16q12-13, and, in 2000, mutations in the cylindromatosis (CYLD) gene were determined to cause BSS, familial cylindromatosis (FC; OMIM 132700) and multiple familial trichoepithelioma type 1 (MFT1; OMIM 601606). The CYLD gene encodes an enzyme with deubiquitinase activity. To date, a total of 95 different diseases-causing mutations have been published for the CYLD gene. A summary of mutations identified in Hungarian patients and a review of previously published mutations are presented in this update. The majority of the sequence changes are frameshift (48%), nonsense (27%), missense (12%) and splice-site (11%) mutations; however, two in-frame deletions have also been reported Most mutations are located in exons 9-20. Analysis of the identified CYLD gene mutations and the observed BSS, FC and MFT1 clinical phenotypes of the patients revealed significant genotype-phenotype correlations. Elucidation of these genotype-phenotype correlations is critical for the diagnosis of these rare monogenic skin diseases. In addition, characterized correlations may promote the understanding of their mechanisms and may hopefully contribute to the development of future therapeutic modalities.

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Section: Variants Of the Cyld Genementioning

confidence: 99%

Section: Ethnic Variationmentioning

confidence: 99%

Section: Ethnic Variationmentioning

confidence: 99%

Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

See 2 more Smart Citations

Phenotype–genotype correlations for clinical variants caused by CYLD mutations

Nagy

Farkas

Kemény

et al. 2015

European Journal of Medical Genetics

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“…In 2004, Zhang et al (2004) identified the pathogenic gene responsible for multiple familial trichoepitheliomas (MFT) on chromosome 16q12-13 and identified CYLD as the target gene. The relationship between MFT and the CYLD gene was further confirmed in many other pedigrees (Zuo et al, 2007;Chen et al, 2011;Ying et al, 2012). We recruited 8 multiple trichoepitheliomas patients for the present study, including 6 sporadic cases and 2 mother-daughter relationships.…”

Section: Introductionmentioning

confidence: 58%

Germline mutation analysis in the CYLD gene in Chinese patients with multiple trichoepitheliomas

Li¹,

Guan²,

Xiao³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. Trichoepithelioma is a benign neoplasm that primarily shows follicular germinative differentiation. Classic trichoepithelioma typically presents as a skin-colored papule or nodule on the face or upper trunk; lesions have a predilection for the nose. Trichoepithelioma can be sporadic or familial and solitary or multiple. Most previously reported multiple trichoepithelioma cases are familial, and germline CYLD mutations could be detected in some patients. We performed mutational analysis of the germline CYLD gene in 8 Chinese multiple trichoepitheliomas patients, 6 of which were sporadic cases. A heterozygous missense mutation (c.1112C>A) in the 9th exon of the CYLD gene was detected in some mother-daughter patients. However, the germline CYLD mutation could not be detected in the 6 non- 9651©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 13 (4): 9650-9655 (2014) Mutation analysis of multiple trichoepitheliomas familial cases. The results suggest that the pathogenesis of sporadic multiple trichoepitheliomas may differ from that of familial cases. Our findings also further confirmed the genetic heterogeneity of multiple trichoepitheliomas.

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Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling

Blake

Toro

2009

Hum. Mutat.

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Germline mutations in the cylindromatosis (CYLD) gene have been described in families with cylindromas, trichoepitheliomas, and/or spiradenomas. Brooke-Spiegler syndrome (BSS) is the autosomal dominant predisposition to skin appendageal neoplasms including cylindromas, trichoepitheliomas, and/or spiradenomas. We review the clinical features, molecular genetics, and the animal models of BSS. To date, a total of 51 CYLD mutations have been reported, occurring in exons 9–20, in 73 families with diverse ethnic and racial backgrounds. Of 51 mutations, 86% are expected to lead to truncated proteins. The seven missense mutations reported to date occur only within the ubiquitin-specific protease (USP) domain of the CYLD protein and most are associated exclusively with multiple familial trichoepithelioma. CYLD functions as a tumor suppressor gene. CYLD encodes a deubiquitinating (DUB) enzyme that negatively regulates the NF-kappaB and c-Jun N-terminal kinase pathways. CYLD DUB activity is highly specific for lysine 63 (K63)-linked ubiquitin (Ub) chains but has been shown to act on K48-linked Ub chains as well. In 2008 the CYLD USP domain was crystallized, revealing that the truncated Fingers subdomain confers CYLD’s unique specificity for K63-linked ubiquitin chains. Recent work using animal models revealed new roles for CYLD in immunity, lipid metabolism, spermatogenesis, osteoclastogenesis, anti-microbial defense and inflammation.

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A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue

Cited by 26 publications

References 8 publications

Phenotype–genotype correlations for clinical variants caused by CYLD mutations

Phenotype–genotype correlations for clinical variants caused by CYLD mutations

Germline mutation analysis in the CYLD gene in Chinese patients with multiple trichoepitheliomas

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling

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