Mutations in the TELO2 gene were recently described as causing a syndrome characterized by developmental delay, microcephaly and dysmorphic features, which was then termed You-Hoover-Fong syndrome. Researchers of the Institute of Human Genetics Göttingen, together with their collaboration partners from Denmark, now identified two novel disease-associated compound heterozygous TELO2 mutations in a family and expanded the clinical spectrum of this rare syndrome. Their index patient presented with a more severe manifestation compared to the previously described six patients and she had also eye anomalies, bilateral hearing loss, an abnormal kidney and seizures. The study has been published in Molecular Genetics and Genomics Medicine.

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome
Moosa S, Altmüller J, Lyngbye T, Christensen R, Li Y, Nürnberg P, Yigit G, Vogel I and Wollnik B
Mol Genet Genomic Med 2017; doi:10.1002/mgg3.287