A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review-Reference-Cited by-同舟云学术

A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review

Published:2021-05-05 Issue:7 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Yu Hui¹²^ORCID,He Xun³⁴⁵,Liu Xiangqin⁶,Zhang Houbin³⁶⁷,Shen Zhu³⁴⁵,Shi Yi³⁶⁷,Liu Xiaoqi³⁶⁷

Affiliation:

1. College of Medical Technology Chengdu University of Traditional Chinese Medicine Chengdu China

2. Jiangyou People's Hospital Jiangyou China

3. School of Medicine University of Electronic Science and Technology of China Chengdu China

4. Sichuan Provincial Institute of Dermatology and Venereology Chengdu China

5. Department of Dermatology Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital Chengdu China

6. Department of Laboratory Medicine Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital Chengdu China

7. Sichuan Provincial Key Laboratory for Human Disease Gene Study, Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026) Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital Chengdu China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1686

Reference22 articles.

1. A method and server for predicting damaging missense mutations

2. Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

3. Predicting the Functional Effect of Amino Acid Substitutions and Indels

4. Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients

5. Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C

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