The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment

Eliana Haddad-Eid, Noa Gur*, Sharbel Eid, Tammy Pilowsky-Peleg, Rachel Straussberg

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


Aim: To explore the cognitive and behavioral phenotype associated with a recently reported variant in endoplasmic reticulum membrane complex EMC10 c.287delG (Gly96Alafs∗9), suggested to cause a novel syndromic neurodevelopmental disorder. Methods: Homozygous EMC10 variant identified by a combination of autozygosity mapping and exome sequencing was found in five children (aged 7–18) from a large extended family. Their functioning was compared to normative data as well as to that of age-matched relatives (siblings/cousins), sharing similar familial and demographic characteristics. Neuropsychological, behavioral, and daily functioning were assessed. Results: Performance of all participants with EMC10 variant on both cognitive functioning and adaptive skills was lower than the normal range fulfilling diagnostic criteria for intellectual disability. Their functioning was also lower than that of their matched relatives on most areas of functioning, except visual memory that was found higher, in the low average range. Language difficulty was apparent in all participants with EMC10, and a discrepancy within participants’ phenotype was found, with lower verbal abilities compared to visuospatial ability. More behavioral problems were found, although not in all participants with EMC10. Conclusion: Homozygous EMC10 variant was found associated with a phenotype of intellectual disability and language deficits.

Original languageAmerican English
Pages (from-to)56-61
Number of pages6
JournalEuropean Journal of Paediatric Neurology
StatePublished - Mar 2022

Bibliographical note

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© 2022


  • EMC10 variant
  • Intellectual disability
  • Language
  • Neuropsychological assessment


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