Hanife Saat, Ibrahim Sahin, Neslihan Duzkale, Muzeyyen Gonul, Taha Bahsi
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引用次数: 1
Abstract
Objective: Ichthyosis is a clinically heterogeneous group of genodermatoses characterized by widespread drying and scaling of the skin. It is also a genetically heterogeneous disorder, and 67 genes associated with the disease have been identified to date. However, there are still undiscovered genes causing the disease.
Methods: We investigated 19 Turkish patients from 17 unrelated families using clinical exome sequencing or multigene panel screening.
Results: Sixteen likely pathogenic or pathogenic variants were detected in 13 unrelated patients. We identified "variant of unknown significance" alteration in only one patient. Seven novel variants were identified in ABCA12, ALOX12B, and ALOXE3. The most commonly mutated gene was TGM1, followed by ABCA12 and ALOX12B.
Conclusions: Because of the wide genetic variability of ichthyosis, it is difficult to diagnose the disease quickly and definitively. The clinical use of next-generation sequencing (NGS) methodologies is beneficial in the diagnostic approach to ichthyosis and genetic counseling. This study highlights the underlying molecular cause of ichthyosis by determining the mutational spectrum in a cohort of 19 patients. This study is the first and largest research from Turkey using NGS that highlights all ichthyosis subtypes.
期刊介绍：
The Medeniyet Medical Journal (Medeniyet Med J) is an open access, peer-reviewed, and scientific journal of Istanbul Medeniyet University Faculty of Medicine on various academic disciplines in medicine, which is published in English four times a year, in March, June, September, and December by a group of academics. Medeniyet Medical Journal is the continuation of Göztepe Medical Journal (ISSN: 1300-526X) which was started publishing in 1985. It changed the name as Medeniyet Medical Journal in 2015. Submission and publication are free of charge. No fees are asked from the authors for evaluation or publication process. All published articles are available online in the journal website (www.medeniyetmedicaljournal.org) without any fee. The journal publishes intradisciplinary or interdisciplinary clinical, experimental, and basic researches as well as original case reports, reviews, invited reviews, or letters to the editor, Being published since 1985, the Medeniyet Med J recognizes that the best science should lead to better lives based on the fact that the medicine should serve to the needs of society, and knowledge should transform society. The journal aims to address current issues at both national and international levels, start debates, and exert an influence on decision-makers all over the world by integrating science in everyday life. Medeniyet Med J is committed to serve the public and influence people’s lives in a positive way by making science widely accessible. Believing that the only goal is improving lives, and research has an impact on people’s lives, we select the best research papers in line with this goal.
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