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
| Autor: | Danielle K Bourque, Martine Tétreault, Kristin D. Kernohan, Taila Hartley, Daniela Pohl, Sarah M. Nikkel, David A. Dyment |
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| Rok vydání: | 2017 |
| Předmět: |
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 |
| Zdroj: | European journal of medical genetics. 61(2) |
| ISSN: | 1878-0849 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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