EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

doi:10.1002/humu.23170

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EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Human mutation - 1 Apr 2017

Skopkova Martina, Hennig Friederike, Shin Byung-Sik, Turner Clesson E, Stanikova Daniela, Brennerova Katarina, Stanik Juraj, Fischer Ute, Henden Lyndal, Müller Ulrich, Steinberger Daniela, Leshinsky-Silver Esther, Bottani Armand, Kurdiova Timea, Ukropec Jozef, Nyitrayova Olga, Kolnikova Miriam, Klimes Iwar, Borck Guntram, Bahlo Melanie, Haas Stefan A, Kim Joo-Ran, Lotspeich-Cole Leda E, Gasperikova Daniela, Dever Thomas E, Kalscheuer Vera M

Abstract excerpt

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...

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PMID: 28055140
DOI: 10.1002/humu.23170
PMCID: PMC6267786

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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