title: A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features.
abstract: Interstitial deletions of the 16q centromeric region are rarely reported. A microdeletion of the 16q12.2q21 region was identified in a patient with intellectual disability, epilepsy, short stature, and distinctive features; including up-slanting palpebral fissures, hypertelorism, epicanthic folds, anteverted nares, simple philtrum, thin upper lip vermilion, high arched palate, posteriorly rotated ears, and overlapping toes in his right foot. Although the deleted region includes the genes responsible for neurological impairments (GNOA1, GPR56, KATNB1, and BBS2), haploinsufficiency of these genes would not be associated with the patient's phenotype. When NDRG4, present in the deleted region, was knocked out in mice, these mice exhibited spatial learning deficits. Thus, we hypothesize that this gene could be a potential candidate underlying the neurological observations of the patient. Because RSPRY1 was been discovered as the cause of progressive skeletal dysplasia, a loss of this gene might explain the skeletal defects observed in the patient.
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.affiliation: Department of Pediatrics, Niigata City General Hospital, Niigata, Japan.
authors.forename: Sawako
authors.initials: S
authors.lastname: Yamazaki
authors.affiliation: Department of Pediatrics, Niigata City General Hospital, Niigata, Japan.|Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan.
authors.forename: Kanju
authors.initials: K
authors.lastname: Ikeno
authors.affiliation: Department of Child Neurology, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Tohyama
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010641:Phenotype; D013577:Syndrome
keywords: 16q12.2q21 deletion; NDRG4; RSPRY1; epilepsy; intellectual disability