Yin Jiaojiao, Huang Dan, Liu Zhenya, Zhu Enpeng, Zhang Chong, Wang Linyan, Li Bing
Department of Clinical Laboratory, Gansu Provincial Maternity and Child-care Hospital, Lanzhou, Gansu, China.
School of Public Health, Gansu University of Chinese Medicine, Lanzhou, Gansu, China.
Front Pediatr. 2025 Sep 4;13:1587175. doi: 10.3389/fped.2025.1587175. eCollection 2025.
Pelger-Huët anomaly (PHA), an autosomal dominant disorder characterized by abnormal granulocyte morphology, was first described in 1928. Mutations in the lamin B receptor () 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 gene mutation. Whole-exome sequencing uncovered the 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 gene. Analyzing the differential diagnosis between PHA, immature granulocytes, and pseudo-PHA, along with elucidating genotype-phenotype correlations for mutations, is crucial for advancing our understanding of PHA and related disorders.
Pelger-Huët畸形（PHA）是一种常染色体显性疾病，其特征为粒细胞形态异常，于1928年首次被描述。核纤层蛋白B受体（）基因突变导致一系列表型，从孤立性PHA、伴有轻度骨骼异常的PHA到胚胎致死性格林伯格骨骼发育不良。我们报告了一名中国男孩，其外周血粒细胞异常与一种新的基因突变相关。全外显子测序发现了该基因杂合突变，NM_194442.2:c.561C＞G（p.Tyr187*）。值得注意的是，该患者因半椎体继发脊柱侧弯，这可能代表了该基因突变之前未被报道的骨骼表现。分析PHA、未成熟粒细胞和假性PHA之间的鉴别诊断，以及阐明该基因突变的基因型-表型相关性，对于加深我们对PHA及相关疾病的理解至关重要。
