The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment
The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment
复制标题
DOI：
10.1016/j.ejpn.2022.01.012
复制
发表时间：
2022-02-03
影响因子：
3.1
通讯作者：
Straussberg, Rachel
中科院分区：
文献类型：
--
作者：
Haddad-Eid, Eliana;Gur, Noa;Straussberg, Rachel
目的：为探讨最近报道的一种EMC 10 c.287delG（Gly 96 Alafs *9）变异体的认知和行为表型，该变异体可能导致一种新的综合征型神经发育障碍。他们的功能进行了比较，规范的数据，以及年龄匹配的亲属（兄弟姐妹/堂兄弟姐妹），共享相似的家庭和人口统计学特征。神经心理，行为，和日常functions.Results：EMC 10变体的所有参与者的认知功能和适应技能的性能低于正常范围履行智力残疾的诊断标准。他们的功能也低于其匹配的亲属在大多数领域的功能，除了视觉记忆被发现较高，在低平均范围。语言困难在所有EMC 10的参与者中都很明显，并且发现参与者表型之间的差异，与视觉空间能力相比，语言能力较低。结论：EMC 10纯合子变异与智力残疾和语言障碍相关。(c)2022年由Elsevier Ltd代表欧洲儿科神经病学学会发布。
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.(c) 2022 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.