A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature |
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| Authors: | Danielle K. Bourque Taila Hartley Sarah M. Nikkel Daniela Pohl Martine Tétreault Kristin D. Kernohan David A. Dyment |
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| Affiliation: | 1. Department of Genetics, Children''s Hospital of Eastern Ontario, Ottawa, Ontario, Canada;2. Children''s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada;3. Division of Neurology, Children''s Hospital of Eastern Ontario, Ottawa, Ontario, Canada;4. Department of Human Genetics, McGill University, Québec, Canada;5. McGill University and Genome Quebec Innovation Center, Montreal, Québec, Canada |
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| Abstract: | Intellectual disability (ID) affects 1–2% of the general population and up to 50% of those with ID are estimated to have an underlying genetic cause. Next-generation sequencing provides an efficient means to identify the molecular causes of monogenic forms of ID. Here we present an 18 year old male with severe ID, absent speech, microcephaly, ataxia, dysmorphic facial features, and a refractory, early-onset seizure disorder. Exome sequencing revealed a rare de novo mutation in the X-linked gene RPL10 (c.232A > G, p.K78E). Previous reports of inherited mutations in RPL10 have suggested a role for the gene in neurodevelopment and the individual reported shows marked similarities to three members of a family with the same mutation reported in the literature. The p.K78E substitution appears to be associated with severe microcephaly, seizures, hearing loss, growth retardation, cardiac defects, and dysmorphic facial features. This is the first instance that a de novo mutation in RPL10 has been reported. |
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| Keywords: | rpl10 Ribosomopathy Intellectual disability Epilepsy Exome sequencing |
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