KRT71螺旋终止基元内的错义变异导致中国家庭常染色体显性羊毛/毛少症

IF 2.7 3区医学 Q2 DERMATOLOGY

Journal of Dermatology Pub Date : 2025-08-11 DOI:10.1111/1346-8138.17896

Xi Chen, Zhenzhen Wang, Xiaoxian Li, Guoyan Liu

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引用次数: 0

摘要

先前对狗、猫、小鼠和大鼠的研究已经证实，KRT71多态性会导致卷曲/波浪状的被毛表型。在人类中，KRT71螺旋起始基序的变异与毛毛有关，毛毛是一种罕见的遗传性毛干疾病。在此，我们报告了一种新的杂合错义变异(c.1295A>G:p。Tyr432Cys, NM_033448.3)位于中国一个家庭常染色体显性毛毛（ADWH）分离的KRT71螺旋终止基序内。Sanger测序证实该变异与疾病表型完全共分离。这一发现扩展了ADWH的基因型和表型谱。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

A Missense Variant Within the Helix Termination Motif of KRT71 Causes Autosomal Dominant Woolly Hair/Hypotrichosis in a Chinese Family

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A Missense Variant Within the Helix Termination Motif of KRT71 Causes Autosomal Dominant Woolly Hair/Hypotrichosis in a Chinese Family

Previous studies in dogs, cats, mice, and rats have established that KRT71 polymorphisms cause curly/wavy coat phenotypes. In humans, variants in the helix initiation motif of KRT71 are associated with woolly hair, a rare hereditary hair shaft disorder. Here, we report a novel heterozygous missense variant (c.1295A>G:p.Tyr432Cys, NM_033448.3) within the helix termination motif of KRT71 segregating with autosomal dominant woolly hair (ADWH) in a Chinese family. Sanger sequencing confirmed complete co-segregation of this variant with the disease phenotype. This finding extends the genotypic and phenotypic spectrum of ADWH.

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来源期刊

Journal of Dermatology 医学-皮肤病学

CiteScore

4.60

自引率

9.70%

发文量

368

审稿时长

4-8 weeks

期刊介绍： The Journal of Dermatology is the official peer-reviewed publication of the Japanese Dermatological Association and the Asian Dermatological Association. The journal aims to provide a forum for the exchange of information about new and significant research in dermatology and to promote the discipline of dermatology in Japan and throughout the world. Research articles are supplemented by reviews, theoretical articles, special features, commentaries, book reviews and proceedings of workshops and conferences. Preliminary or short reports and letters to the editor of two printed pages or less will be published as soon as possible. Papers in all fields of dermatology will be considered.