A Novel Pathogenic Variant in RTEL1 Causes Dyskeratosis Congenita/Hoyeraal-Hreidarsson Syndrome: A Report of Two Cases.
Michelle Nash, Alexandra Satty, Ariella Reiter et al.
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Case in brief
Two patients presented with severe immunodeficiency and very early-onset inflammatory bowel disease. Genetic testing identified the same novel homozygous RTEL1 variant, c.1670T>C (p.L557P). The authors concluded that the clinical findings in these patients support the variant’s pathogenicity and its association with a telomere biology disorder in the dyskeratosis congenita/Hoyeraal-Hreidarsson spectrum. The abstract does not report treatment or clinical resolution.
What made this case unusual
Both patients had severe immunodeficiency and very early-onset inflammatory bowel disease alongside the same novel homozygous RTEL1 variant, highlighting an atypical clinical presentation of a telomere biology disorder.
Diagnostic / clinical pearl
Severe immunodeficiency with very early-onset inflammatory bowel disease can accompany RTEL1-related telomere biology disorders, even when the classic dyskeratosis congenita features are not described.