Journal article
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO
M Skopkova, F Hennig, BS Shin, CE Turner, D Stanikova, K Brennerova, J Stanik, U Fischer, L Henden, U Müller, D Steinberger, E Leshinsky-Silver, A Bottani, T Kurdiova, J Ukropec, O Nyitrayova, M Kolnikova, I Klimes, G Borck, M Bahlo Show all
Human Mutation | Published : 2017
DOI: 10.1002/humu.23170
Abstract
Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response has been identified as a cause of several multisystemic syndromes. Here, we link MEHMO syndrome, whose genetic etiology was unknown, to this group of disorders. MEHMO is a rare X-linked syndrome characterized by profound intellectual disability, epilepsy, hypogonadism and hypogenitalism, microcephaly, and obesity. We have identified a C-terminal frameshift mutation (Ile465Serfs) in the EIF2S3 gene in three families with MEHMO syndrome and a novel maternally inherited missense EIF2S3 variant (c.324T>A; p.Ser108Arg) in another male patient with less severe c..
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Awarded by National Institute of Child Health and Human Development
Funding Acknowledgements
Contract grant sponsor(s): Scientific Grant Agency of the Ministry of Education, Science, Research and Sport of the Slovak Republic (2/0166/14); Slovak Research and Development Agency (APVV-187-12); Transendogen (26240220051); National Institutes of Health; EU FP7 Project GENCODYS (241995); John and Patricia Farrant Scholarship; Australian Postgraduate Award Scholarship; NHMRC Senior Research Fellowship (APP1102971); NHMRC Program Grant (APP1054618); Victorian State Government Operational Infrastructure Support, Australian Government NHMRC IRIISS.