title: A 7q31.33q32.1 microdeletion includingLRRC4andGRM8is 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 ade novo1.9-Mb microdeletion in 7q31.33q32.1, in whichLRRC4,GRM8, and 11 other genes were included.GRM8is associated with attention deficit hyperactivity disorder.LRRC4is related to synaptic cell adhesion molecules, some of which are associated with autism. The deletion ofLRRC4may be responsible for the severe ID and characteristics of autism observed in the present patient.
authors.affiliation: Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan; Department of Oral and Maxillofacial Surgery, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Sangu
authors.affiliation: Institute of Medical Genetics, Tokyo Women's Medical University , Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.affiliation: Department of Pediatrics, Nagaoka Red Cross Hospital , Nagaoka, Japan.
authors.forename: Yuya
authors.initials: Y
authors.lastname: Takahashi
authors.affiliation: Department of Pediatrics, Niigata University Medical and Dental Hospital , Niigata, Japan.
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Ohashi
authors.affiliation: Department of Child Neurology, Epilepsy Center, Nishi-Niigata Chuo National Hospital , Niigata, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Tohyama
authors.affiliation: Institute of Medical Genetics, Tokyo Women's Medical University , Tokyo, Japan.
authors.forename: Toshiyuki
authors.identifier: 0000-0002-9484-3505
authors.initials: T
authors.lastname: Yamamoto