Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria
| العنوان: | Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria |
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| المؤلفون: | Huiyao Ge, Qi Zhen, Qiongqiong Xu, Ruixue Zhang, Shirui Chen, Weiwei Chen, Liangdan Sun, Liang Yong, Yafen Yu, Xia Hu, Hui Zhang, Lu Cao, Yiwen Mao |
| المصدر: | BMC Medical Genomics BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021) |
| بيانات النشر: | BioMed Central, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Dyschromatosis universalis hereditaria, Biology, Gene mutation, QH426-470, 030207 dermatology & venereal diseases, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, OMIM : Online Mendelian Inheritance in Man, Genetics, Missense mutation, 1000 Genomes Project, Internal medicine, Genetics (clinical), Sanger sequencing, ABCB6 gene, Point mutation, Skin Diseases, Genetic, medicine.disease, RC31-1245, SASH1 gene, 030104 developmental biology, Mutation (genetic algorithm), Mutation, symbols, Pigmentation Disorders, Research Article |
| الوصف: | Background Dyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis characterized by generalized mottled macules with hypopigmention and hyperpigmention. ABCB6 and SASH1 are recently reported pathogenic genes related to DUH, and the aim of this study was to identify the causative mutations in a Chinese family with DUH. Methods Sanger sequencing was performed to investigate the clinical manifestation and molecular genetic basis of these familial cases of DUH, bioinformatics tools and multiple sequence alignment were used to analyse the pathogenicity of mutations. Results A novel missense mutation, c.1529G>A, in the SASH1 gene was identified, and this mutation was not found in the National Center for Biotechnology Information Database of Short Genetic Variation, Online Mendelian Inheritance in Man, ClinVar, or 1000 Genomes Project databases. All in silico predictors suggested that the observed substitution mutation was deleterious. Furthermore, multiple sequence alignment of SASH1 revealed that the p.S510N mutation was highly conserved during evolution. In addition, we reviewed the previously reported DUH-related gene mutations in SASH1 and ABCB6. Conclusion Although the affected family members had identical mutations, differences in the clinical manifestations of these family members were observed, which reveals the complexity of the phenotype-influencing factors in DUH. Our findings reveal the mutation responsible for DUH in this family and broaden the mutational spectrum of the SASH1 gene. |
| اللغة: | English |
| تدمد: | 1755-8794 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd6b2a51ee9e6a90904396f15b19d8c http://europepmc.org/articles/PMC8236144 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....0fd6b2a51ee9e6a90904396f15b19d8c |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 17558794 |
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