Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You ‐Hoover‐Fong syndrome

ConclusionThis 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. Recently, compound heterozygous loss‐of‐function mutations in TELO2 were shown to underlie You‐Hoover‐Fong syndrome. Patients with mutations in TELO2 present with microcephaly and associated intellectual disability, postnatal growth retardation and dysmorphic features. Here, we describe Danish siblings with two novel mutations in TELO2 and highlight the index patient's clinical features, which are more severe than patients previously described, thus serving to expand both the clinical and mutational spectrum of this rare disorder.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Clinical Report Source Type: research

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