患有小耳症的新生儿的辐射敏感性：奈梅亨断裂综合征病例报告。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY Birth Defects Research Pub Date : 2024-05-18 DOI:10.1002/bdr2.2346

Gunes Cakmak Genc, Busra Yilmaz, Sevim Karakas Celik, Cumhur Aydemir, Recep Eroz, Ahmet Dursun

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引用次数: 0

摘要

目的：奈梅亨断裂综合征（NBS）是一种常染色体隐性遗传 DNA 修复障碍，其特征是免疫缺陷和淋巴增生性恶性肿瘤风险增加：我们观察到，一名因小头畸形而接受随访的新生儿，在一次偶然的颅骨发育不良放射影像检查后，其培养细胞的染色体重排率增加。我们通过全外显子测序确定了 NBN 基因中 c.657_661delACAAA/p.Lys219fs (rs587776650) 的同源缺失：结论：彻底检查小头畸形新生儿的临床特征并考虑染色体不稳定综合征（如奈梅亨断裂综合征）至关重要。不要忽视辐射敏感性这一综合征的特征，这对患者的存活时间至关重要。

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Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome

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.

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.