RUNX2基因新突变致新生儿颅锁骨发育不全综合征1例

doi:10.3969/j.issn.1004-583X.2021.01.013

摘要/Abstract

摘要：

颅锁骨发育不全综合征(cleidocranial dysplasia, CCD)是一种罕见的具有多种骨骼发育异常的常染色体显性遗传性疾病,其致病基因为RUNX2,位于染色体6p21。CCD的临床表现多样,其治疗管理需要多学科合作,早期诊断和治疗对纠正畸形和改善患者的生活质量至关重要。CCD在新生儿期临床表现不完全,其锁骨异常极易被误诊为骨折。本文总结1例RUNX2基因新突变所致新生儿CCD的临床特点,报道其基因突变新位点,以提高临床医师对本病的认识,为探讨CCD致病的分子遗传学机制提供参考。

关键词: 锁骨颅骨发育不良, RUNX2基因, 婴儿, 新生

Abstract:

Cleidocranial dysplasia (CCD) is a rare autosomal dominant hereditary disease with multiple skeletal dysplasia. Its pathogenic gene is RUNX2 located at chromosome 6p21. The clinical manifestations of CCD are diverse, and the management of its treatment requires multidisciplinary cooperation. Early diagnosis and treatment are essential to correct malformations and improve the life quality of patients. The clinical manifestations of CCD in the neonatal period are incomplete, and the abnormal clavicle is easily misdiagnosed as fracture. This paper summarizes the clinical characteristics of a newborn CCD caused by novel RUNX2 mutation, and reports the new mutation sites so as to improve clinicians' understanding of the disease and provide a reference for exploring the molecular genetic mechanism of CCD pathogenesis.

Key words: cleidocranial dysplasia, RUNX2 gene, infant, newborn

中图分类号:

R681.1

李娜, 张芳, 郝丽红, 刘洋. RUNX2基因新突变致新生儿颅锁骨发育不全综合征1例[J]. 临床荟萃, 2021, 36(1): 62-65.

Li Na, Zhang Fang, Hao Lihong, Liu Yang. Case report of a neonate with cleidocranial dysplasia caused by novel RUNX2 mutation[J]. Clinical Focus, 2021, 36(1): 62-65.

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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2021.01.013

https://huicui.hebmu.edu.cn/CN/Y2021/V36/I1/62

图/表 6

图1 前囟

图2 后囟

图3 第1次胸部X线

图4 患儿头颅CT成像

图5 第2次胸部X线

图6 受检者RUNX2基因c.539C>A(p.Ala180Glu)变异Sanger测序家系验证结果,从左到右依次为患儿、父亲、母亲

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