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A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism.

ABSTRACT: A 4-year-old boy with severe intellectual disability (ID) and characteristics of autism was found to have a de novo 1.9-Mb microdeletion in 7q31.33q32.1, in which LRRC4, GRM8, and 11 other genes were included. GRM8 is associated with attention deficit hyperactivity disorder. LRRC4 is related to synaptic cell adhesion molecules, some of which are associated with autism. The deletion of LRRC4 may be responsible for the severe ID and characteristics of autism observed in the present patient.

SUBMITTER: Sangu N 

PROVIDER: S-EPMC5298938 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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A 7q31.33q32.1 microdeletion including <i>LRRC4</i> and <i>GRM8</i> is associated with severe intellectual disability and characteristics of autism.

Sangu Noriko N   Shimojima Keiko K   Takahashi Yuya Y   Ohashi Tsukasa T   Tohyama Jun J   Yamamoto Toshiyuki T  

Human genome variation 20170209

A 4-year-old boy with severe intellectual disability (ID) and characteristics of autism was found to have a <i>de novo</i> 1.9-Mb microdeletion in 7q31.33q32.1, in which <i>LRRC4</i>, <i>GRM8</i>, and 11 other genes were included. <i>GRM8</i> is associated with attention deficit hyperactivity disorder. <i>LRRC4</i> is related to synaptic cell adhesion molecules, some of which are associated with autism. The deletion of <i>LRRC4</i> may be responsible for the severe ID and characteristics of auti  ...[more]

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