title: Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.
abstract: Interstitial deletions of chromosome 3 are rare, and only one patient with a microdeletion of 3p21.31 has been reported to date. We identified two additional cases of patients with microdeletions of 3p21.31. The characteristic clinical features of developmental delay and distinctive facial features (including arched eyebrows, hypertelorism, epicanthus, and micrognathia) were seen both in the previously reported patient and in the two newly identified patients. In these two new cases, additional features, including elevated serum creatine kinase levels and characteristic neuroradiological features with white matter involvement, were seen. These features had not been described in the previous case in which the patient was examined during infancy, suggesting an age-dependent mechanism. The shortest region of overlap among the three deletions narrowed down the candidate genes that may be responsible for the common neurological features to the bassoon (presynaptic cytomatrix protein) gene (BSN), which has an important function in neuronal synapses. In this study, we confirmed common phenotypic features in the patients with microdeletions of 3p21.31 and identified additional features that have not been reported previously. Because the constellation of such characteristic features is quite unique, clinical manifestations of the patients with microdeletions of 3p21.31 would be clinically recognizable as a contiguous gene deletion syndrome.
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Kaoru
authors.initials: K
authors.lastname: Eto
authors.forename: Norio
authors.initials: N
authors.lastname: Sakai
authors.forename: Shino
authors.initials: S
authors.lastname: Shimada
authors.forename: Mutsuki
authors.initials: M
authors.lastname: Shioda
authors.forename: Keiko
authors.initials: K
authors.lastname: Ishigaki
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Hamada
authors.forename: Michiko
authors.initials: M
authors.lastname: Shinpo
authors.forename: Junji
authors.initials: J
authors.lastname: Azuma
authors.forename: Koji
authors.initials: K
authors.lastname: Tominaga
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.forename: Keiichi
authors.initials: K
authors.lastname: Ozono
authors.forename: Makiko
authors.initials: M
authors.lastname: Osawa
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood / Q000235:genetics / Q000503:physiopathology; D000293:Adolescent; D002675:Child, Preschool; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D003402:Creatine Kinase / Q000097:blood; D002658:Developmental Disabilities / Q000097:blood / Q000503:physiopathology*; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000097:blood / Q000150:complications / Q000503:physiopathology*; D009419:Nerve Tissue Proteins / Q000097:blood; D010641:Phenotype
chemical_list: C498440:BSN protein, human; D009419:Nerve Tissue Proteins; D003402:Creatine Kinase
keywords: developmental delay; distinctive facial features; elevated serum creatine kinase (CK); microdeletion of 3p21.31; the bassoon (presynaptic cytomatrix protein) gene (BSN); white matter involvement