Excessive glycine loop variations in the keratin 10 tail domain and implications for skin fragility

In KRT10, the insertions of limited c.1654_1683 repeats were prevalent and harmless in the general population. However, excessive insertions, exemplified by compound heterozygous mutations with insertions of two and four c.1654_1683 repeats, could be pathogenic. This study was novel in highlighting the pathogenicity of excessive glycine loop extension in the keratin tail domain, establishing a paradigm for other human keratins with glycine-rich tail domains.