1. 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
- Author
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Danielle K Bourque, Martine Tétreault, Kristin D. Kernohan, Taila Hartley, Daniela Pohl, Sarah M. Nikkel, and David A. Dyment
- Subjects
0301 basic medicine ,Male ,Ribosomal Proteins ,Microcephaly ,Ataxia ,Ribosomal Protein L10 ,Adolescent ,Hearing loss ,Population ,Mutation, Missense ,Biology ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,Intellectual Disability ,Intellectual disability ,Genetics ,medicine ,Humans ,Exome ,education ,Genetics (clinical) ,Exome sequencing ,education.field_of_study ,General Medicine ,Syndrome ,medicine.disease ,030104 developmental biology ,Mutation (genetic algorithm) ,medicine.symptom ,030217 neurology & neurosurgery - 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.
- Published
- 2017