新生儿小头畸形的放射敏感性：范可尼贫血型断裂综合征病例报告。
Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome.
机构信息
Department of Medical Genetics, Faculty of Medicine, Zonguldak Bülent Ecevit University Zonguldak, Turkey.
Department of Pediatrics, Faculty of Medicine, Zonguldak Bülent Ecevit University Zonguldak, Turkey.
出版信息
Birth Defects Res. 2024 May;116(5):e2346. doi: 10.1002/bdr2.2346.
AIM
Nijmegen breakage syndrome (NBS) is an autosomal recessive DNA repair disorder which is characterized by immunodeficiency and increased risk of lymphoproliferative malignancy.
CASE
We observed an increase in the rate of chromosomal rearrangements in the cultured cells following an incidental radiograph for craniosynostosis in a newborn who was followed up due to microcephaly. We identified a homozygous deletion of c.657_661delACAAA/p.Lys219fs (rs587776650) in the NBN gene through whole exome sequencing.
CONCLUSION
It is crucial to thoroughly examine the clinical features of newborns with microcephaly and consider chromosomal instability syndromes just like Nijmegen breakage syndrome. Not overlooking radiosensitivity, which is a characteristic feature of this syndrome, is a vital condition to the patient's survival time.
目的
Nijmegen 断裂综合征（NBS）是一种常染色体隐性 DNA 修复障碍，其特征为免疫缺陷和增加的淋巴增殖性恶性肿瘤风险。
病例
我们观察到一名因小头畸形而接受随访的新生儿在偶然进行颅骨融合线放射摄影后，其培养细胞中的染色体重排率增加。我们通过全外显子组测序鉴定出 NBN 基因中的 c.657_661delACAAA/p.Lys219fs（rs587776650）纯合缺失。
结论
彻底检查小头畸形新生儿的临床特征并考虑像 Nijmegen 断裂综合征这样的染色体不稳定综合征至关重要。不忽视该综合征的特征性放射敏感性是患者生存时间的重要条件。
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