Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F16%3A10322969" target="_blank" >RIV/00216208:11140/16:10322969 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1159/000437303" target="_blank" >http://dx.doi.org/10.1159/000437303</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1159/000437303" target="_blank" >10.1159/000437303</a>

Result language

angličtina

Original language name

Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation

Original language description

Brooke-Spiegler syndrome is a rare autosomal-dominant genetic disorder characterized by multiple adnexal tumors, including cylindromas, spiradenomas, spiradenocylindromas and trichoepitheliomas. It is caused by germline CYLD mutations commonly leading to a premature stop codon. We here report on 3 novel CYLD mutations in 3 unrelated BSS patients, including the classic phenotype, multiple familial trichoepitheliomas phenotype and malignant transformation. These included c.1821_1826+1delinsCT/L607Ffs*9, c.2666A>T/p.D889V and c.2712delT/p.905Kfs*8. By extending the spectrum of CYLD mutations, better understanding of the molecular mechanisms of BSS can be gained, which might later assist in finding new treatment options. (C) 2015 S. Karger AG, Basel

Czech name

—

Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FP - Other medical fields

OECD FORD branch

—

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2016

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Dermatology

ISSN

1018-8665

e-ISSN

—

Volume of the periodical

232

Issue of the periodical within the volume

1

Country of publishing house

CH - SWITZERLAND

Number of pages

8

Pages from-to

30-37

UT code for WoS article

000370150600006

EID of the result in the Scopus database

2-s2.0-84958105992