Mutation analysis of the SLURP1 gene in a family of mal de Meleda and literature review
XU Zhe
LIN Zhi-miao
Abstract：Objective To identify the SLURP1 gene mutation in a family of mal de Meleda, and to provide evidence for clinical diagnosis and genetic counseling of the disease. Methods Genomic DNA was extracted from peripheral blood of the proband and his parents. All SLURP1 exons and the flanking intronic sequences were PCR-amplified and subjected to automatic DNA sequencing. The SLURP1 gene of the proband's wife was also screened. Results Direct sequencing of PCR products revealed SLURP1 homozygous mutation in the proband: c.256G＞A(p.G86R), while his parents were both heterozygous carriers and his wife was normal. Conclusion SLURP1 homozygous mutation c.256G＞A was responsible for mal de Meleda.
Keywords：Mal de MeledaSLURP1 geneGene mutation
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 145-148 )