A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome

A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome

Abstract Hoyeraal-Hreidarsson syndrome (HHS) is the most severe form of dyskeratosis congenita (DC) and is caused by mutations in genes involved in telomere maintenance. Here, we identified male siblings from a family with HHS carrying a hemizygous mutation (c.1345C > G, p.R449G), located in the...

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Main Authors: Chia-Mei Chu, Hsin-Hui Yu, Tsai-Ling Kao, Yi-Hsuan Chen, Hsuan-Hsuan Lu, En-Ting Wu, Yun-Li Yang, Chin-Hsien Lin, Shin-Yu Lin, Meng-Ju Melody Tsai, Yin-Hsiu Chien, Wuh-Liang Hwu, Wen-Pin Chen, Ni-Chung Lee, Chi-Kang Tseng
Format: Article
Language:English
Published: Nature Portfolio 2022-10-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-022-00335-8

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https://doi.org/10.1038/s41525-022-00335-8

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