Journal of Shandong University (Health Sciences) ›› 2026, Vol. 64 ›› Issue (10): 88-94.doi: 10.6040/j.issn.1671-7554.0.2026.1016

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Pathological mechanisms and clinical significances of CUL4B gene loss-of-function mutations

JIANG Baichun, GONG Yaoqin   

  1. Department of Genetics, the Key Laboratory of Experimental Teratology of the Ministry of Education, School of Basic Medical Sciences, Shandong University, Jinan 250012, Shandong, China
  • Published:2026-10-10

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Abstract: The loss-of-function mutation of CUL4B gene is one of the most common pathogenic genes in X-linked mental retardation(XLMR)syndrome. In addition to intellectual disability, patients also have symptoms such as speech delay, motor delay, seizures, short stature, brachydactyly, obesity, increased monocyte counts in peripheral blood, and hypogonadism, indicating that the CUL4B gene plays a broad role in the development and homeostasis maintenance of various tissues and organs. Analyzing the pathogenic mechanisms of CUL4B gene loss-of-function mutations leading to the above symptoms not only helps to understand the function of this gene, but also provides new insights for the treatment of this disease and related diseases. This article will discuss the pathological mechanisms and clinical significances of CUL4B gene loss-of-function mutations in areas such as intellectual disability, epilepsy, metabolism, skeleton, and immunity.

Key words: CUL4B gene, Intellectual disability, Epilepsy, Skeleton, Immunity

CLC Number: 

  • Q343.1
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