Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2025 May;197(5):e63966.
doi: 10.1002/ajmg.a.63966. Epub 2024 Dec 20.

Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of Cancer

Alessandro De Falco  1 , Fabiola De Gregorio  2 , Massimo Eraldo Abate  2 , Chiara Paolella  3 , Vincenzo Nigro  4   5 , Iris Scala  6 , Nicola Brunetti-Pierri  1   5   7
Affiliations
Case Reports

Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of Cancer

Alessandro De Falco et al. Am J Med Genet A. 2025 May.

Abstract

You-Hoover-Fong syndrome (YHFS) is a rare autosomal recessive disorder characterized by global developmental delay, microcephaly, dysmorphic facial features, and a spectrum of neurodevelopmental abnormalities. YHFS is caused by pathogenic variants in TELO2, a gene involved in regulation of the cell cycle. To date, 29 individuals with YHFS have been reported and none of them has been reported to develop tumors. We describe two siblings with YHFS both presenting with bilateral acoustic nerve agenesis, microcephaly, and dysmorphic features. Notably, one sibling developed hepatoblastoma at the age of 7.5 years. Clinical exome sequencing revealed in both siblings compound heterozygous variants in the TELO2 gene. Although the development of hepatoblastoma might be coincidental, given the role of TELO2 in cell cycle, we suspect YHFS might be associated with an increased cancer susceptibility. Further cases are needed to confirm whether YHFS is associated with an increased risk of cancer.

Keywords: TELO2; You‐Hoover‐Fong syndrome; bilateral acoustic nerve agenesis; hepatoblastoma; oncological predisposition.

PubMed Disclaimer

References

    1. Albokhari, D., A. B. Pritchard, A. Beil, et al. 2023. “TELO2‐Related Syndrome (You‐Hoover‐Fong Syndrome): Description of 14 New Affected Individuals and Review of the Literature.” American Journal of Medical Genetics. Part A 191, no. 5: 1261–1272.
    1. Badmus, K. A., Z. Idrus, G. Y. Meng, A. Q. Sazili, and K. Mamat‐Hamidi. 2021. “Telomere Length and Regulatory Genes as Novel Stress Biomarkers and Their Diversities in Broiler Chickens (Gallus gallus domesticus) Subjected to Corticosterone Feeding.” Animals (Basel): 11: 2759.
    1. Brioude, F., J. M. Kalish, A. Mussa, et al. 2018. “Expert Consensus Document: Clinical and Molecular Diagnosis, Screening and Management of Beckwith‐Wiedemann Syndrome: An International Consensus Statement.” Nature Reviews. Endocrinology 14: 229–249.
    1. Ciaccio, C., V. Duga, C. Pantaleoni, et al. 2021. “Milder Presentation of TELO2‐Related Syndrome in Two Sisters Homozygous for the p.Arg609His Pathogenic Variant.” European Journal of Medical Genetics 64: 104116.
    1. Del‐Prado‐Sanchez, C., J. Armstrong‐Moron, C. Veiga, et al. 2020. “Cataract in You‐Hoover‐Fong Syndrome: TELO2 Deficiency.” Ophthalmic Genetics 41: 656–658.

Publication types

MeSH terms

Substances

LinkOut - more resources