Twenty-two novel mutations in a Chinese cohort of 137 patients with porokeratosis were identified using microfluidics (Fluidigm)

Wenhao Shi; Xi'an Fu; Zhenzhen Wang; Zihao Mi; Hao Zhang; Gongqi Yu; Tingting Liu; Honglei Wang; Zheng Pang; Xiaoqiao Lang; Qianqian Xia; Fangfang Bao; Zhenhua Yue; Hong Liu; Furen Zhang

doi:10.1016/j.jdermsci.2020.10.013

Twenty-two novel mutations in a Chinese cohort of 137 patients with porokeratosis were identified using microfluidics (Fluidigm)

J Dermatol Sci. 2021 Jan;101(1):75-77. doi: 10.1016/j.jdermsci.2020.10.013. Epub 2020 Oct 24.

Authors

Wenhao Shi¹, Xi'an Fu², Zhenzhen Wang³, Zihao Mi³, Hao Zhang⁴, Gongqi Yu³, Tingting Liu³, Honglei Wang³, Zheng Pang⁵, Xiaoqiao Lang⁶, Qianqian Xia⁶, Fangfang Bao³, Zhenhua Yue³, Hong Liu⁷, Furen Zhang⁸

Affiliations

¹ School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, China; Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China; Shandong First Medical University & Shandong Academy of Medical Sciences Jinan, Shandong, China.
² Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China; Shandong First Medical University & Shandong Academy of Medical Sciences Jinan, Shandong, China. Electronic address: f19830827@126.com.
³ Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China; Shandong First Medical University & Shandong Academy of Medical Sciences Jinan, Shandong, China.
⁴ Binzhou Medical University, Binzhou, Shandong, China.
⁵ School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, China; Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China.
⁶ School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, China.
⁷ School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, China; Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China; Shandong First Medical University & Shandong Academy of Medical Sciences Jinan, Shandong, China; Binzhou Medical University, Binzhou, Shandong, China. Electronic address: hongyue2519@hotmail.com.
⁸ School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, China; Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology, Jinan, Shandong, China; Shandong First Medical University & Shandong Academy of Medical Sciences Jinan, Shandong, China; Binzhou Medical University, Binzhou, Shandong, China.

PMID: 33168400
DOI: 10.1016/j.jdermsci.2020.10.013

No abstract available

Publication types

Letter
Observational Study

MeSH terms

Adolescent
Adult
Age of Onset
Aged
Asian People / genetics
Child
Child, Preschool
Cohort Studies
DNA Mutational Analysis / instrumentation
DNA Mutational Analysis / statistics & numerical data
Female
High-Throughput Nucleotide Sequencing
Humans
Infant
Infant, Newborn
Lab-On-A-Chip Devices
Male
Middle Aged
Mutation Rate
Pedigree
Polymorphism, Single Nucleotide
Porokeratosis / blood
Porokeratosis / diagnosis
Porokeratosis / genetics*
Porokeratosis / pathology
Skin / pathology
Young Adult