Mutation analysis of the PNPLA1 gene in a family with autosomal recessive congenital ichthyosis / 中华皮肤科杂志

Objective To identify a causative gene of autosomal recessive congenital ichthyosis (ARCI) in a Chinese family,and to analyze the genotype-phenotype correlation.Methods Peripheral blood samples were collected from the proband,his elder brother and parents,and genomic DNA was extracted from these blood samples.Genome-wide exome sequencing was conducted to determine the mutation site in the proband,and then allele-specific oligonucleotide primers were designed based on the mutation site.PCR was performed to detect the mutation site to further identify the causative gene of ARCI in the family.Results A new homozygous missense mutation was identified in exon 4 in 1 allele of the PNPLA1 gene in the proband,which led to a codon change from cytosine (C) to thymine (T) at position 700 (c.700C ＞ T) and resulted in the substitution of proline by serine (p.pro234ser).The same mutation was also detected in the proband's brother,and his parents were the mutation carriers.No mutations were found in unrelated healthy Chinese individuals.Conclusion The missense mutation in the PNPLA1 gene (p.pro234ser) is associated with clinical symptoms of the patient with ARCI.

High-throughput sequencing analysis of gut microbiome in patients with severe acne vulgaris and healthy individuals / 中华皮肤科杂志

Objective To compare differences of gut microbiome between patients with severe acne vulgaris and healthy individuals by using high-throughput sequencing technology.Methods Stool samples were collected from 10 outpatients with severe acne vulgaris and 10 age-and sex-matched healthy controls.Then,the bacterial DNA was extracted and subjected to 16S rRNA sequencing for the identification of microbial species,and the differences of gut microbiome were compared between the patients and controls.Results There were no significant differences in the diversity of intestinal microflora,but only the relative abundance of a few bacteria differed significantly between the two groups.Gut microbiome in the two groups mainly consisted of Bacteroidetes,Firmicutes,Proteobacteria and Actinobacteria.There were no significant differences in the relative abundance of bacteria at the phylum and genus levels between the two groups.However,the relative abundance of Blautia producta and Coprococcus eutactus at the species level differed remarkably between the two groups.Conclusion No significant differences in the bacterial diversity indices are found,but some bacterial species significantly differ between the patients with severe acne vulgaris and healthy controls.

Mutation analysis of the OSMR gene in two Chinese families with familial primary cutaneous amyloidosis / 中华皮肤科杂志

Objective To detect mutations in the OSMR gene in 2 Chinese families with familial primary cutaneous amyloidosis (FPCA),and to analyze their relationship with clinical manifestations.Methods Clinical data were collected from 2 families with FPCA,and genomic DNA was extracted from peripheral blood samples.PCR was performed to amplify 18 exons and their flanking sequences of the OSMR gene followed by DNA sequencing in 2 probands and their family members.One hundred healthy individuals served as controls.Results In the first family,a heterozygous mutation (c.2081C ＞ T) in exon 15 of the OSMR gene,which leads to a codon change at amino acid position 694 (p.P694L),was identified in the proband,as well as in the other 4 patients.In the second family,a heterozygous mutation (c.1538G ＞A) in exon 11 of the OSMR gene,which causes a codon change at amino acid position 513 (p.G513D),was identified in the other proband and her mother,suggesting the cosegregation of the gene mutation with the disease.None of the above mutations were detected in the healthy family members or controls.Conclusion The heterozygous mutations p.P694L and p.G513D in the OSMR gene may be associated with primary cutaneous amyloidosis.