Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia
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Pure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC clusters. Hoxc13-null mice are known to develop hair and nail defects very similar to those seen in human PHNED. We performed whole-exome sequencing in a consanguineous Chinese family affected by PHNED and identified a homozygous nonsense mutation (c.390C>A [p.Tyr130(∗)]) in HOXC13 in all affected individuals. In an additional affected female from a consanguineous Afghan family, we found a 27.6 kb homozygous microdeletion involving the first exon of HOXC13. We examined HOXC13 expression in scalp specimen obtained from the index individual of the Chinese family and detected dramatically reduced mRNA levels in skin tissue and nearly absent protein staining in hair follicles, suggesting a mechanism of nonsense-mediated mRNA decay. We also observed markedly decreased expression of four HOXC13 target genes in the specimen. Taken together, our results demonstrate that loss-of-function mutations in HOXC13 cause autosomal-recessive PHNED and further highlight the importance of HOXC13 in hair and nail development.
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Variants of TSPEAR, HOXC13, or CST6 have been shown to underlie new forms of ED.
“To be mentioned here, for example, variants of TSPEAR [47,48], HOXC13 [49] or CST6 [50] have been shown to underlie new forms of ED.”
From Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update (2022) · cites this paper as [49]
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- Authors
- Lin, Z., Chen, Q., Shi, L., Lee, M., Giehl, K. A., Tang, Z., Wang, H., Zhang, J., Yin, J., Wu, L., Xiao, R., Liu, X., Dai, L., Zhu, X., Li, R., Betz, R. C., Zhang, X., & Yang, Y.
- Affiliations
- Peking University First Hospital (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Ludwig-Maximilians-Universität München (DE)
- Qingdao University (CN)
- BGI Group (China) (CN)
- University of Bonn (DE)
- Corresponding author
- Zhang, Xue
- Yang, Yong
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2012-11
- Volume
- 91
- Issue
- 5
- Pages
- 906-911
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC3487122
- OpenAlex
- W2011531593
- Cited by
- 79
- References
- 37
- Citations by year
- 2026: 6 · 2025: 1 · 2024: 7 · 2023: 1 · 2022: 5 · 2021: 7 · 2020: 2 · 2019: 5 · 2018: 6 · 2017: 6 · 2016: 10 · 2015: 5 · 2014: 9 · 2013: 9
- FWCI
- 8.47
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Deutsche Forschungsgemeinschaft
- National Natural Science Foundation of China
- Topics
- Health Sciences › Medicine › Urology › Hair Growth and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
- Keywords
- HOXC13, loss-of-function mutations, nonsense mutation, microdeletion, autosomal recessive inheritance, consanguinity, hair follicle development, nail development, nonsense-mediated mRNA decay, Hox gene expression
- MeSH terms
- Animals, China, Consanguinity, Ectodermal Dysplasia, Female, Gene Expression Regulation, Genes, Recessive, Homozygote, Humans, Hypotrichosis, Male, Mice, Transgenic, Nail Diseases, Pedigree, Phenotype, Skin, Homeodomain Proteins, Gene Expression Profiling, Asian People, Mice, Exome
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