Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis
| العنوان: | Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis |
|---|---|
| المؤلفون: | Fozia Fozia, Hafiz Majid Mahmood, Abdul Nasir, Saadullah Khan, Muhammad Sohaib, Sher Alam Khan, Rubina Nazli, Siddique Akber Ansari, Ahmed Bari, Sulman Basit, Abdulrahman M. Al-Obaid, Riaz Ullah |
| المصدر: | Genes Genes, Vol 12, Iss 373, p 373 (2021) Volume 12 Issue 3 |
| بيانات النشر: | MDPI, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Proband, Adult, Male, lcsh:QH426-470, TGM1 and SPINK5, Biology, Filaggrin Proteins, Article, whole exome sequencing, 030207 dermatology & venereal diseases, 03 medical and health sciences, symbols.namesake, Consanguinity, 0302 clinical medicine, Congenital ichthyosis, Exome Sequencing, Genetics, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Pakistan, Child, Genetics (clinical), Exome sequencing, Sanger sequencing, Transglutaminases, Ichthyosis, Homozygote, S100 Proteins, medicine.disease, Pedigree, lcsh:Genetics, 030104 developmental biology, Phenotype, Case-Control Studies, Mutation, Etiology, symbols, Serine Peptidase Inhibitor Kazal-Type 5, Female, Sulfotransferases, splice site variant, Ichthyosis vulgaris |
| الوصف: | Background: Ichthyoses are a large group of hereditary cornification disorders, which are both clinically and etiologically heterogeneous and affect mostly all the skin surface of the patients. Ichthyosis has its origin in an ancient Greek word “ichthys” meaning fish, this is because the ichthyosis patients have dry, thickened, and scaly skin. There is an excess accumulation of epidermal cells resulting in the appearance of continuous and widespread scales on the body. There are many varieties of ichthyosis with a broad spectrum of intensity, severity, and associated symptoms, most of them are extremely rare. Ichthyosis vulgaris is the most frequently occurring type of ichthyoses. Method: The present study consists of four Pakistani ichthyosis families (A, B, C, and D). Whole exome sequencing (WES) approach was used to identify the pathogenic sequence variants in probands. The segregation of these variants in other participants was confirmed by Sanger sequencing. Results: Total four variants including, two splice site (TGM1: c.2088 + 1G > A) and (SPINK5: c.882 + 1G > T), a missense (SULT2B1: c.419C > T p. Ala140Val), and a nonsense (FLG: c.6109C > p. Arg2037Ter) variant were identified in families A, C, B, and D, respectively, as causative mutations responsible for ichthyosis in these families. Conclusion: Our study unravels the molecular etiology of the four Pakistani ichthyosis families and validates the involvement of TGM1, SULT2B1, SPINK5, and FLG, in the etiology of different forms of ichthyosis. In addition, this study also aims to give a detailed clinical report of the studied ichthyosis families. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2073-4425 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b639227b5c722513fd698bc6606562fdTest http://europepmc.org/articles/PMC7999895Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....b639227b5c722513fd698bc6606562fd |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20734425 |
|---|