The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone et al.
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Case in brief
Two young adults from consanguineous parents presented with a homozygous p.(Arg215Ter) variant in XRCC2, exhibiting features of Fanconi Anemia (FA) such as mild intellectual disability, microcephaly, distinctive facial features, short stature, thumb abnormalities, and abnormal skin pigmentation. Notably, they tested negative for DEB in childhood and showed no significant hematological issues until later in life, suggesting a unique FA-like disorder.
What made this case unusual
The absence of major hematological abnormalities in childhood, despite the presence of typical FA physical characteristics, distinguishes this case from classic Fanconi Anemia presentations.
Diagnostic / clinical pearl
Clinicians should consider the possibility of atypical presentations of Fanconi Anemia, particularly in patients with XRCC2 mutations, where significant hematological abnormalities may not manifest early.
Why it matters
This case highlights the need for awareness of genetic variants that can lead to FA-like syndromes without the expected hematological complications, emphasizing the importance of comprehensive clinical evaluation.