Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome |
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| Authors: | Sofia Ygberg Anna Lindstrand |
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| Affiliation: | 1. Neuropediatric Unit, Karolinska University Hospital, Stockholm Sweden ; 2. Department of Clinical Genetics and Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Stockholm Sweden ; 3. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm Sweden |
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| Abstract: | We describe two brothers with a recurrent truncating EIF2S3 variant and MEHMO (Mental retardation, Epileptic seizures, Hypogonadism and ‐genitalism, Microcephaly, Obesity). Both had the previously described facial dysmorphic features, microcephaly, developmental impairment, hypoglycemia, hypothyreosis, diabetes mellitus, epilepsy, hypertonus, obesity, and micropenis. Additionally, we describe hypothermia and reduced umbilical blood flow. |
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| Keywords: | EIF2S3, MEHMO, X‐ linked genetic disease |
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