Porokeratosis is a rare chronic progressive hypokeratotic skin disease, possibly related to the mevalonate pathway. Variations in four enzymes, including phosphomevalonate kinase (PMVK) may alter this pathway, ultimately leading to porokeratosis.The aim of the study was to identify the causative gene variant of porokeratosis in a Chinese family and investigate its population frequency and pathogenicity.In this study, Sanger sequencing was used to identify the gene variant causative of porokeratosis; its population frequency was investigated by polymerase chain reaction-restriction fragment length polymorphism in 4 patients and three normal individuals as well as in 100 normal unrelated controls; finally, the pathogenicity of the mutation and the associated structural changes were predicted.We identified a novel heterozygous missense variant, c.207G&gt;T (p. Lys69Asn) in the PMVK gene. This variant was found in all patients but not in the normal individuals in this family or in the 100 controls. In silico analysis indicated that the variant was pathogenic; p.Lys69Asn changed the length of the α-helix and the hydrogen bond pattern compared with the wild-type protein.The novel variant c.207G&gt;T (p. Lys69Asn) in the PMVK gene was the causative variant in this porokeratosis family. This finding provides further evidence for the genetic basis of this disease.

Wenjing Zhang

Xinmiao Nie

Lei Shi

Fengmin Shao

Lihua Cao

Human Heredity

《人类遗传》汇集了来自世界各地的原创研究报告和简短交流，致力于人群遗传学、关联与连锁分析、疾病遗传机制、统计遗传学新方法等方面的方法论和应用研究。 ，分析罕见变异和下一代测序的结果。该信息对许多医学分支的价值体现在该期刊在免疫学和血液学、流行病学和公共卫生规划等领域的引用次数，以及至少 50% 的“人类遗传”论文被引用的事实发表后 8 年多仍被引用（根据 ISI 期刊引文报告）。关于方法论主题的特刊（例如 2014 年的“血缘关系和基因组学”；2012 年的“分析复杂疾病中的罕见变异”）或特定领域的进展回顾（2014 年的“欧洲人群的遗传多样性：进化证据和医学意义”） ; 'GENES AND THE ENVIRONMENT IN OBESITY' IN 2013）每年出版。邀请该领域的知名专家为这些特殊问题做出贡献。

The journal Human Heredity publishes original research reports and brief communications from around the world, focusing on population genetics, association and linkage analysis, mechanisms of disease inheritance, and new methodologies and applications in statistical genetics. It analyzes results related to rare variants and next-generation sequencing, providing significant value across various medical branches, particularly in immunology, hematology, epidemiology, and public health planning, as evidenced by its citation frequency. According to the ISI Journal Citation Reports, at least 50% of the papers published in Human Heredity are still cited more than eight years after publication. The journal also publishes special issues on methodological topics (e.g., 'Kinship and Genomics' in 2014; 'Analyzing Rare Variants in Complex Diseases' in 2012) and reviews of advances in specific fields (e.g., 'Genetic Diversity in European Populations: Evolutionary Evidence and Medical Implications' in 2014; 'Genes and the Environment in Obesity' in 2013). Renowned experts in the field are invited to contribute to these special issues.

《人类遗传》期刊汇集了来自全球的原创研究报告和简短交流，专注于人群遗传学、关联与连锁分析、疾病遗传机制以及统计遗传学的新方法和应用研究。期刊分析罕见变异和下一代测序的结果，对多个医学领域具有重要价值，尤其在免疫学、血液学、流行病学和公共卫生规划等领域的引用频率较高。根据ISI期刊引文报告，至少50%的《人类遗传》论文在发表后8年内仍被引用。此外，期刊每年还会出版关于方法论主题的特刊（如2014年的“血缘关系和基因组学”；2012年的“分析复杂疾病中的罕见变异”）以及特定领域的进展回顾（如2014年的“欧洲人群的遗传多样性：进化证据和医学意义”；2013年的“肥胖中的基因与环境”）。期刊邀请该领域的知名专家为这些特刊贡献研究成果。

Category	Quartile
生物学	4
生物学, 遗传学	4

A Novel <i>PMVK </i>Variant Associated with Familial Porokeratosis

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Journal Info

Category	Quartile
GENETICS & HEREDITY	4