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| Item Type: | Article |
|---|---|
| Title: | Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome |
| Creators Name: | Moosa, S. and Altmüller, J. and Lyngbye, T. and Christensen, R. and Li, Y. and Nürnberg, P. and Yigit, G. and Vogel, I. and Wollnik, B. |
| Abstract: | BACKGROUND: Very recently, compound heterozygous loss-of-function mutations in TELO2 were shown to underlie the newly-described You-Hoover-Fong syndrome. TELO2 forms part of the co-chaperone triple T complex (TTT complex), which plays an important role in the maturation and stabilization of the phosphatidylinositol 3-kinase-related protein kinases (PIKKs). Patients with mutations in TELO2 present with microcephaly and associated intellectual disability, postnatal growth retardation and dysmorphic features. Here, we describe Danish sisters with two novel mutations in TELO2. In particular, we highlight the clinical features of the 22-year index patient, which are more severe than the original patients described, thereby expanding the clinical spectrum of YHFS. METHODS: The index patient was clinically examined and subsequently exome sequencing on her DNA was performed using the NimbleGen SeqCap EZ Human Exome Library v2.0 enrichment kit on an Illumina HiSeq2000 sequencer. RESULTS: Two novel, compound heterozygous mutations in TELO2 were identified in the index patient and her deceased older sister. Both have clinical features in keeping with the original YHFS patients, although the index patient seems to represent the severe end of the clinical spectrum with very marked prenatal onset growth retardation and microcephaly, severe global developmental delay and facial dysmorphic features. Additional clinical findings include eye anomalies (bilateral congenital cataracts, retinitis pigmentosa, convergent squint), bilateral conductive hearing loss, an abnormal kidney and seizures. CONCLUSION: This report of Danish siblings with YHFS serves to expand the presentation of this new syndrome to include features in keeping with a form of microcephalic primordial dwarfism on the severe end of the clinical spectrum, and adds two novel mutations to the TELO2 mutational spectrum. |
| Keywords: | Novel Mutations, Syndromic ID, TELO2, You-Hoover-Fong syndrome |
| Source: | Molecular Genetics & Genomic Medicine |
| ISSN: | 2324-9269 |
| Publisher: | Wiley |
| Volume: | 5 |
| Number: | 5 |
| Page Range: | 580-584 |
| Date: | September 2017 |
| Additional Information: | Additional members of the MM-team are: Ibrahim Adham, Karin Boss, Nina Bögershausen, Peter Burfeind, Silke Kaulfuß, Christian Müller, Silke Pauli, Inka Praulich, Jochen Reiss, Nadine Rosin, Eva Schwaibold, Mateja Smogavec, Lukasz Smorag and Arne Zibat (Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany). |
| Official Publication: | https://doi.org/10.1002/mgg3.287 |
| PubMed: | View item in PubMed |
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