Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome
Gunes Cakmak Genc, Busra Yilmaz, Sevim Karakas Celik, Ahmet Dursun, C. Aydemir, Mustafa Dogan
article (Uluslararası, Hakemli) | Yazar(lar): Gunes Cakmak Genc, Busra Yilmaz, Sevim Karakas Celik, Ahmet Dursun, C. Aydemir, Mustafa Dogan | Yıl: 2024 | Dergi/Kurum: BIRTH DEFECTS RESEARCH | İndeks: WOS.SCI | DOI: 10.1002/bdr2.2346 | Anahtar Kelimeler: chromosomal rearrangements, microcephaly, NBN gene, Nijmegen break
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.