Eliana Haddad-Eid1, Noa Gur2, Sharbel Eid3, Tammy Pilowsky-Peleg4, Rachel Straussberg5. 1. School of Social Sciences, Tel Aviv Yaffo Academic College, Tel Aviv Yaffo, Israel. 2. Department of Psychology, The Hebrew University of Jerusalem, Jerusalem, Israel; The Neuropsychological Unit, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel. Electronic address: noa.gur1@mail.huji.ac.il. 3. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv Yaffo, Israel. 4. Department of Psychology, The Hebrew University of Jerusalem, Jerusalem, Israel; The Neuropsychological Unit, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel. 5. The Neurology Clinic, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel.
Abstract
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.
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.