Nijmegen-Breakage Syndrome; Two Siblings Presenting with Different Phenotypes

Ayça Kıykım
Elif Karakoç Aydıner
İsmail Öğülür
Safa Barış
Ahmet Özen
Kamil Serifov
Güney Bademci
Mustafa Tekin
Nursel H. Elçioğlu
Işıl Barlan


The Nijmegen Breakage syndrome (NBS) is characterized by chromosomal instability, combined immunodeficiency, and distinctive physical features. We present two siblings with NBS presenting with strikingly different manifestations. The proband is a 6-year-old female with short stature, microcephaly, hepatosplenomegaly, rectovaginal fistula, anal atresia, an ectopic kidney, recurrent fevers and otitis media. A 7-year-old brother has developmental delay, failure to thrive, and microcephaly without recurring infections. Both patients have hypogammaglobulinemia, B cell lymphopenia and reduced phytohaemagglutinin-induced lymphocyte proliferation. Both siblings are homozygous for the c.657_661delACAAA (p.Lys219Asnfs*16) mutation in the NBN (NBS1) gene.


Nijmegen breakage syndrome, lymphopenia, chromosomal instability, microcephaly, pachygyria
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