Affiliation:
1. Zhengzhou University People's Hospital, Henan University People's Hospital
2. Henan Provincial People's Hospital, Fuwai Central China, Central China Fuwai Hospital of Zhengzhou University
Abstract
Abstract
Objective
To determine the causative gene mutation in a family with monilethrix and observe the therapeutic effect of minoxidil topical, 5% liniment.
Method
Clinical data from a family with monilethrix were collected. Peripheral blood samples were taken from the proband, the parents, and 100 unrelated healthy controls. Genomic DNA was extracted. The genetic variation sites were screened with genome-wide exome sequencing and verified by Sanger sequencing. The proband was treated with minoxidil topical, 5% liniment (1mL twice daily). Hair quality was examined by dermoscopy before and after treatment.
Results
The proband and her father have the heterozygous missense variant c.1204G>A (p.E402K) in exon 9 of the KRT86 gene. However, the mutation was not found in the mother and healthy controls. The proband was treated with minoxidil topical, 5% liniment. Hair density and hair shaft quality improved significantly after six months of treatment. No adverse events occurred during treatment.
Conclusion
This study shows that p.E402K is a mutation “hotspot” in patients with autosomal dominant monilethrix in China. Treatment with topical minoxidil, 5% liniment, is safe and effective.
Publisher
Research Square Platform LLC