文献类型：期刊文献

英文题名：Novel lamin B receptor mutation (c.561C > G) in a patient with Pelger-Hu?t anomaly: a case report

作者：Yin, Jiaojiao[1,2,3];Huang, Dan[2];Liu, Zhenya[1];Zhu, Enpeng[1,2,3];Zhang, Chong[1];Wang, Linyan[1];Li, Bing[3]

第一作者：Yin, Jiaojiao;尹晶晶

通信作者：Wang, LY[1];Li, B[2]

机构：[1]Gansu Prov Matern & Child Care Hosp, Dept Clin Lab, Lanzhou, Gansu, Peoples R China;[2]Gansu Univ Chinese Med, Sch Publ Hlth, Lanzhou, Gansu, Peoples R China;[3]940th Hosp Chinese Peoples Liberat Army Joint Supp, Dept Clin Lab, Lanzhou, Gansu, Peoples R China

第一机构：Gansu Prov Matern & Child Care Hosp, Dept Clin Lab, Lanzhou, Gansu, Peoples R China

通信机构：[1]corresponding author), Gansu Prov Matern & Child Care Hosp, Dept Clin Lab, Lanzhou, Gansu, Peoples R China;[2]corresponding author), 940th Hosp Chinese Peoples Liberat Army Joint Supp, Dept Clin Lab, Lanzhou, Gansu, Peoples R China.

年份：2025

卷号：13

外文期刊名：FRONTIERS IN PEDIATRICS

收录：;Scopus(收录号：2-s2.0-105016555767);WOS:【SCI-EXPANDED(收录号:WOS:001574829400001)】；

基金：The author(s) declare that financial support was received for the research and/or publication of this article. This work was supported by the Natural Science Foundation of Gansu Province, China (Grant 25JRRA424).

语种：英文

外文关键词：Pelger-Hu & euml;t anomaly; congenital scoliosis; hemivertebrae; lamin B receptor; nonsense mutation

摘要：Pelger-Hu & euml;t anomaly (PHA), an autosomal dominant disorder characterized by abnormal granulocyte morphology, was first described in 1928. Mutations in the lamin B receptor (LBR) gene cause a phenotypic spectrum ranging from isolated PHA, PHA with mild skeletal abnormalities, to the embryonic-lethal Greenberg skeletal dysplasia. We report a Chinese boy presenting peripheral blood granulocyte abnormalities associated with a novel LBR gene mutation. Whole-exome sequencing uncovered the LBR gene heterozygous mutation, NM_194442.2: c.561C > G (p.Tyr187*). Notably, the patient exhibited scoliosis secondary to hemivertebrae, potentially representing a previously unreported skeletal manifestation of mutations in the LBR gene. Analyzing the differential diagnosis between PHA, immature granulocytes, and pseudo-PHA, along with elucidating genotype-phenotype correlations for LBR mutations, is crucial for advancing our understanding of PHA and related disorders.