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Review
. 2018 Feb;61(2):89-93.
doi: 10.1016/j.ejmg.2017.10.011. Epub 2017 Oct 21.

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

Danielle K Bourque  1 , Taila Hartley  2 , Sarah M Nikkel  3 , Daniela Pohl  4 , Martine Tétreault  5 , Kristin D Kernohan  2 ; Care4Rare Canada Consortium  2 ; David A Dyment  3
Affiliations
Review

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

Danielle K Bourque et al. Eur J Med Genet. 2018 Feb.

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.

Keywords: Epilepsy; Exome sequencing; Intellectual disability; Ribosomopathy; rpl10.

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