Frontiers in Genetics (Mar 2023)
Case report: Gene mutation analysis and skin imaging of isolated café-au-lait macules
- Zhenyu Zhong,
- Zhenyu Zhong,
- Zhenyu Zhong,
- Zhenyu Zhong,
- Zhenyu Zhong,
- Tianhui Yang,
- Tianhui Yang,
- Tianhui Yang,
- Tianhui Yang,
- Tianhui Yang,
- Siqi Liu,
- Siqi Liu,
- Siqi Liu,
- Siqi Liu,
- Siqi Liu,
- Shan Wang,
- Shan Wang,
- Shan Wang,
- Shan Wang,
- Shan Wang,
- Shan Zhou,
- Shan Zhou,
- Shan Zhou,
- Shan Zhou,
- Shan Zhou,
- Shuli Du,
- Shuli Du,
- Shuli Du,
- Shuli Du,
- Shuli Du,
- Liyun Zheng,
- Liyun Zheng,
- Liyun Zheng,
- Liyun Zheng,
- Liyun Zheng,
- Xiuli Wang,
- Xiuli Wang,
- Xiuli Wang,
- Xiuli Wang,
- Xiuli Wang,
- Hui Wang,
- Hui Wang,
- Hui Wang,
- Hui Wang,
- Hui Wang,
- Yifan Wang,
- Yifan Wang,
- Yifan Wang,
- Yifan Wang,
- Yifan Wang,
- Min Gao,
- Min Gao,
- Min Gao,
- Min Gao,
- Min Gao
Affiliations
- Zhenyu Zhong
- Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, China
- Zhenyu Zhong
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Zhenyu Zhong
- Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, China
- Zhenyu Zhong
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Zhenyu Zhong
- Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, Anhui, China
- Tianhui Yang
- Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, China
- Tianhui Yang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Tianhui Yang
- Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, China
- Tianhui Yang
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Tianhui Yang
- Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, Anhui, China
- Siqi Liu
- Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, China
- Siqi Liu
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Siqi Liu
- Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, China
- Siqi Liu
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Siqi Liu
- Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, Anhui, China
- Shan Wang
- Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, China
- Shan Wang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Shan Wang
- Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, China
- Shan Wang
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Shan Wang
- Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, Anhui, China
- Shan Zhou
- Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, China
- Shan Zhou
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Shan Zhou
- Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, China
- Shan Zhou
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Shan Zhou
- Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, Anhui, China
- Shuli Du
- Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, China
- Shuli Du
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Shuli Du
- Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, China
- Shuli Du
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Shuli Du
- Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, Anhui, China
- Liyun Zheng
- Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, China
- Liyun Zheng
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Liyun Zheng
- Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, China
- Liyun Zheng
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Liyun Zheng
- Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, Anhui, China
- Xiuli Wang
- Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, China
- Xiuli Wang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Xiuli Wang
- Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, China
- Xiuli Wang
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Xiuli Wang
- Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, Anhui, China
- Hui Wang
- Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, China
- Hui Wang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Hui Wang
- Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, China
- Hui Wang
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Hui Wang
- Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, Anhui, China
- Yifan Wang
- Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, China
- Yifan Wang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Yifan Wang
- Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, China
- Yifan Wang
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Yifan Wang
- Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, Anhui, China
- Min Gao
- Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, China
- Min Gao
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Min Gao
- Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, China
- Min Gao
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Min Gao
- Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, Anhui, China
- DOI
- https://doi.org/10.3389/fgene.2023.1126555
- Journal volume & issue
-
Vol. 14
Abstract
Background: Café-au-lait macules (CALMs) are common birthmarks associated with several genetic syndromes, such as neurofibromatosis type 1 (NF1). Isolated CALMs are defined as multiple café-au-lait macules in patients without any other sign of NF1. Typical CALMs can have predictive significance for NF1, and non-invasive techniques can provide more accurate results for judging whether café-au-lait spots are typical.Objectives: The study aimed to investigate gene mutations in six Chinese Han pedigrees of isolated CALMs and summarize the characteristics of CALMs under dermoscopy and reflectance confocal microscopy (RCM).Methods: In this study, we used Sanger sequencing to test for genetic mutations in six families and whole exome sequencing (WES) in two families. We used dermoscopy and RCM to describe the imaging characteristics of CALMs.Results: In this study, we tested six families for genetic mutations, and two mutations were identified as novel mutations. The first family identified [NC_000017.11(NM_001042492.2):c.7355G>A]. The second family identified [NC_000017.11(NM_001042492.2):c.2739_2740del]. According to genotype-phenotype correlation analyses, proband with frameshift mutation tended to have a larger number of CALMs and a higher rate of having atypical CALMs. Dermoscopy showed uniform and consistent tan-pigmented network patches with poorly defined margins with a lighter color around the hair follicles. Under RCM, the appearance of NF1 comprised the increased pigment granules in the basal layer and significantly increased refraction.Conclusion: A new heterozygous mutation and a new frameshift mutation of NF1 were reported. This article can assist in summarizing the properties of dermoscopy and RCM with CALMs.
Keywords
- isolated café-au-lait macules(CALMs)
- NF1
- dermoscopy
- reflectance confocal microscopy
- mutation
- genetic testing
