The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.

IF 1.5 4区医学 Q4 GENETICS & HEREDITY Molecular Genetics & Genomic Medicine Pub Date : 2024-08-01 DOI:10.1002/mgg3.2501

Giulia Pascolini, Martina Lipari, Federica Gaudioso, Luca Fania, Giovanni Di Zenzo, Biagio Didona

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Abstract

Background: Non-photosensitive trichothiodystrophies (TTDs) are a diverse group of genodermatoses within the subset of conditions known as "sulphur-deficient brittle hair" syndromes. A part of them has only recently been identified, revealing novel causative genes and very rare phenotypes of these genetic skin disorders. At the same time, the molecular basis of previously published and unresolved cases has been revealed through the introduction of innovative genetic techniques. We have previously described the facial phenotype of patients with the Photosensitive form of TTD during childhood. This study marks the beginning of an effort to expand the analysis to include individuals of the same age who do not have photosensitivity.

Methods: A total of 26 facial portraits of TTD paediatric patients with Non-photosensitivity from the literature were analysed using computer-aided technologies, and their facial features were examined through a detailed clinical review.

Results: Distinct facial features were identified in both Photosensitive and Non-photosensitive TTDs.

Conclusion: The present study has comprehensively elucidated the facial features in TTDs, encompassing the Non-photosensitive clinical spectrum.

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非光敏三毛营养不良表型谱的面貌：儿童群体的后续研究。

背景：非光敏性毛发营养不良症（TTDs）是一组多种多样的遗传性皮肤病，属于 "缺硫性脆发 "综合征的子集。其中一部分仅在最近才被发现，揭示了这些遗传性皮肤病的新致病基因和非常罕见的表型。与此同时，通过引入创新的遗传学技术，以前已发表但尚未解决的病例的分子基础也得到了揭示。我们曾描述过儿童期光敏型 TTD 患者的面部表型。这项研究标志着我们开始将分析范围扩大到同龄的非光敏型患者：方法：使用计算机辅助技术分析了文献中总共 26 幅非光敏型 TTD 儿童患者的面部肖像，并通过详细的临床回顾检查了他们的面部特征：结果：在光敏性和非光敏性 TTD 患者中都发现了不同的面部特征：结论：本研究全面阐明了 TTD 的面部特征，涵盖了非光敏型 TTD 的临床范围。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

4.20

自引率

0.00%

发文量

241

审稿时长

14 weeks

期刊介绍： Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.