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Gene detection in a family with monilethrix and treatment with 5% topical minoxidil

OBJECTIVE: To determine the causative gene mutation in a family with monilethrix and observe the therapeutic effect of 5% topical minoxidil. METHOD: Clinical data from a family with monilethrix were collected. Peripheral blood samples were taken from the proband, the parents, and 100 unrelated healt...

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Autores principales: Shen, Qingli, Fu, Zhonghua, Du, Pengqiang, Wang, Jianbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9838763/
https://www.ncbi.nlm.nih.gov/pubmed/36382623
http://dx.doi.org/10.1111/srt.13233
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author Shen, Qingli
Fu, Zhonghua
Du, Pengqiang
Wang, Jianbo
author_facet Shen, Qingli
Fu, Zhonghua
Du, Pengqiang
Wang, Jianbo
author_sort Shen, Qingli
collection PubMed
description OBJECTIVE: To determine the causative gene mutation in a family with monilethrix and observe the therapeutic effect of 5% topical minoxidil. 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 exome sequencing and verified by Sanger sequencing. The proband was treated with 5% topical minoxidil (1 mL 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 7 of the KRT86 gene. However, the mutation was not found in the mother and healthy controls. The proband was treated with 5% topical minoxidil. Hair density and hair shaft quality improved significantly after 6 months of treatment. No adverse events occurred during treatment. CONCLUSION: This study shows that p.E402K is a mutation “hot spot” in patients with autosomal dominant monilethrix in China. Treatment with 5% topical minoxidil, is safe and effective.
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spelling pubmed-98387632023-04-13 Gene detection in a family with monilethrix and treatment with 5% topical minoxidil Shen, Qingli Fu, Zhonghua Du, Pengqiang Wang, Jianbo Skin Res Technol Original Articles OBJECTIVE: To determine the causative gene mutation in a family with monilethrix and observe the therapeutic effect of 5% topical minoxidil. 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 exome sequencing and verified by Sanger sequencing. The proband was treated with 5% topical minoxidil (1 mL 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 7 of the KRT86 gene. However, the mutation was not found in the mother and healthy controls. The proband was treated with 5% topical minoxidil. Hair density and hair shaft quality improved significantly after 6 months of treatment. No adverse events occurred during treatment. CONCLUSION: This study shows that p.E402K is a mutation “hot spot” in patients with autosomal dominant monilethrix in China. Treatment with 5% topical minoxidil, is safe and effective. John Wiley and Sons Inc. 2022-11-16 /pmc/articles/PMC9838763/ /pubmed/36382623 http://dx.doi.org/10.1111/srt.13233 Text en © 2022 The Authors. Skin Research and Technology published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Shen, Qingli
Fu, Zhonghua
Du, Pengqiang
Wang, Jianbo
Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
title Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
title_full Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
title_fullStr Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
title_full_unstemmed Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
title_short Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
title_sort gene detection in a family with monilethrix and treatment with 5% topical minoxidil
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9838763/
https://www.ncbi.nlm.nih.gov/pubmed/36382623
http://dx.doi.org/10.1111/srt.13233
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