Analysis of clinical feature and genetic basis of a rare case with Olmsted syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic characteristics of a patient featuring autosomal dominant Olmsted syndrome.@*METHODS@#Clinical features of the patient was reviewed. High-throughput sequencing was carried out to detect potential genetic variants.@*RESULTS@#The proband, a 12-year-old girl, featured excessive keratinization on hands and feet, contracture of finger joints, and abnormal position and residual contraction of the fifth toes. Skin biopsy showed significant hyperkeratosis, epidermal hyperplasia, and mild interepidermal cell edema. A de novo heterozygous missense variant c.2016G>T(p.Met672Ile) was identified in the TRPV3 gene by high-throughout sequencing. The result was verified by Sanger sequencing.@*CONCLUSION@#The destructive palmoplantar keratosis in the child may be attributed to the c.2016G>T(p.Met672Ile) variant of the TRPV3 gene. Aboving finding has provided new evidence for the correlation of genetic variants with clinical phenotypes of Olmsted syndrome.

Application of Next-Generation Sequencing in Detection of Mutation Gene in ZMPSTE24 in Prenatal Diagnosisa Chinese Pedigree with Pathological Chorioamniotic Membrane Separation / 中山大学学报(医学科学版)

[Objective] To describe a case of a rare,novel mutation causing recurrent chorioamniotic membrane separation in a Chinese family with combined next-generation sequencing (NGS) and Sanger sequencing.[Methods] For the affected fetus,potential mutation were detected by the conbinedcombined next-generation sequencing (NGS) and Sanger sequencing.And the prenatal diagnosis were identified by Sanger sequencing.[Results] A frameshifting mutation c.1389_1390delAG (inherited from mother),and a missense mutationc.1006 G ＞ C (inherited from mother) have been identified in the affected fetus (the second pregnancy).The prenatal diagnosis of the third fetus turns out to be a carrier,the mutation was inherited from father.[Conclusions] We describe a novel mutation in gene ZMPSTE24,which was considered with mandibuloacral dysplasia with type B,and that may be the cousecoursecausing of recurrent chorioamniotic membrane separation.This rare mutation constitutes an additional heterogeneous defect causing chorioamniotic membrane separation.And the conbinedcombined next-generation sequencing (NGS) and Sanger sequencing allows high resolution characterization of novel mutions that are not readily detected by present methods.

Gene diagnosis for a child with tuberous sclerosis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the pathogenic mutation in a family affected with tuberous sclerosis.</p><p><b>METHODS</b>For the proband and its parents, mutational hotspots in the 11 exons of TSC1 and TSC2 gene were analyzed with DNA sequencing and bioinformatics tools.</p><p><b>RESULTS</b>A heterozygous c.4493G>C missense mutation was identified in the proband. The same mutation was however not found in the parents.</p><p><b>CONCLUSION</b>The missense mutation c.4493G>C probably underlie the tuberous sclerosis complex seen in the child.</p>