Case Report: A novel WRN mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome

Werner syndrome is an autosomal recessive rare disease caused by a WRN gene mutation, which is rarely reported in the Chinese population. We report the clinical and genetic data of a Chinese patient with Werner syndrome. The proband was a 40-year-old male patient who presented with diabetic foot ulc...

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Autores principales: Peng, Huifang, Wang, Jie, Liu, Yanyun, Yang, Haiping, Li, Liping, Ma, Yujin, Zhuo, Huiqin, Jiang, Hongwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9334726/
https://www.ncbi.nlm.nih.gov/pubmed/35909544
http://dx.doi.org/10.3389/fendo.2022.918979
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author Peng, Huifang
Wang, Jie
Liu, Yanyun
Yang, Haiping
Li, Liping
Ma, Yujin
Zhuo, Huiqin
Jiang, Hongwei
author_facet Peng, Huifang
Wang, Jie
Liu, Yanyun
Yang, Haiping
Li, Liping
Ma, Yujin
Zhuo, Huiqin
Jiang, Hongwei
author_sort Peng, Huifang
collection PubMed
description Werner syndrome is an autosomal recessive rare disease caused by a WRN gene mutation, which is rarely reported in the Chinese population. We report the clinical and genetic data of a Chinese patient with Werner syndrome. The proband was a 40-year-old male patient who presented with diabetic foot ulcers, accompanied by short stature, cataracts, hypogonadism, and hair thinning, and myelodysplastic syndrome (MDS) occurred after 18 months. Genetic sequencing showed there were compound heterozygous mutations as c.3384-1G>C and c.3744dupA in the WRN gene. The c.3744dupA mutation is a novel pathogenic variation for Werner syndrome.
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spelling pubmed-93347262022-07-30 Case Report: A novel WRN mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome Peng, Huifang Wang, Jie Liu, Yanyun Yang, Haiping Li, Liping Ma, Yujin Zhuo, Huiqin Jiang, Hongwei Front Endocrinol (Lausanne) Endocrinology Werner syndrome is an autosomal recessive rare disease caused by a WRN gene mutation, which is rarely reported in the Chinese population. We report the clinical and genetic data of a Chinese patient with Werner syndrome. The proband was a 40-year-old male patient who presented with diabetic foot ulcers, accompanied by short stature, cataracts, hypogonadism, and hair thinning, and myelodysplastic syndrome (MDS) occurred after 18 months. Genetic sequencing showed there were compound heterozygous mutations as c.3384-1G>C and c.3744dupA in the WRN gene. The c.3744dupA mutation is a novel pathogenic variation for Werner syndrome. Frontiers Media S.A. 2022-07-15 /pmc/articles/PMC9334726/ /pubmed/35909544 http://dx.doi.org/10.3389/fendo.2022.918979 Text en Copyright © 2022 Peng, Wang, Liu, Yang, Li, Ma, Zhuo and Jiang https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Endocrinology
Peng, Huifang
Wang, Jie
Liu, Yanyun
Yang, Haiping
Li, Liping
Ma, Yujin
Zhuo, Huiqin
Jiang, Hongwei
Case Report: A novel WRN mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome
title Case Report: A novel WRN mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome
title_full Case Report: A novel WRN mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome
title_fullStr Case Report: A novel WRN mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome
title_full_unstemmed Case Report: A novel WRN mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome
title_short Case Report: A novel WRN mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome
title_sort case report: a novel wrn mutation in werner syndrome patient with diabetic foot disease and myelodysplastic syndrome
topic Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9334726/
https://www.ncbi.nlm.nih.gov/pubmed/35909544
http://dx.doi.org/10.3389/fendo.2022.918979
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