Abstract | BACKGROUND: CASE PRESENTATION: We report a Chinese family with patients presenting diverse phenotype of Keratosis pilaris. A next-generation sequencing panel interrogating 25 ichthyosis related genes with sequencing coverage of the coding regions and splice site junctions, was applied to screen genetic mutations. A gross deletion encompassing the STS gene ranging from exon 1-10 and the FLG c.3321delA mutation were identified in a 31-year old male proband, one of his sister, and his mother, and all the three patients showed obvious symptom. The deletion of STS gene was confirmed by real-time quantitative PCR. The proband's another sister and his two nephews carried only FLG c.3321delA mutation. Patients carried both mutations presented more severe symptom, while those only carried FLG c.3321delA mutation showed slight or normal phenotype. CONCLUSIONS: In conclusion, we found that the IV phenotype was exacerbated by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis. Other genomic regions no included in the study might be also involved in phenotypic modifications.
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Authors | Xiong Wang, Lu Tan, Na Shen, Yanjun Lu, Ying Zhang |
Journal | BMC medical genetics
(BMC Med Genet)
Vol. 19
Issue 1
Pg. 120
(07 18 2018)
ISSN: 1471-2350 [Electronic] England |
PMID | 30021537
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- FLG protein, human
- Filaggrin Proteins
- Intermediate Filament Proteins
- STS protein, human
- Steryl-Sulfatase
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Topics |
- Adult
- Asian People
(genetics)
- Female
- Filaggrin Proteins
- Genetic Predisposition to Disease
(genetics)
- Humans
- Ichthyosis
(genetics)
- Ichthyosis Vulgaris
(genetics)
- Intermediate Filament Proteins
(genetics)
- Male
- Mutation
(genetics)
- Pedigree
- Phenotype
- Steryl-Sulfatase
(genetics)
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