title: Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.
abstract: Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome, clinical features of which include significant learning difficulties, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties, and cleft or high palate. Haploinsufficiency of one gene within the deleted region, SATB2, has been suggested to be responsible for most of the features of the syndrome. This article describes seven previously unreported patients with deletions at 2q33.1, all partially overlapping the previously described critical region for the 2q33.1 microdeletion syndrome. The deletions ranged in size from 35 kb to 10.4 Mb, with the smallest deletion entirely within the SATB2 gene. Patients demonstrated significant developmental delay and challenging behaviour, a particular behavioural phenotype that seems to be emerging with more reported patients with this condition. One patient in this cohort has a deletion entirely within SATB2 and has a cleft palate, whereas several patients with larger deletions have a high arched palate. In addition, one other patient has significant orthopaedic problems with ligamentous laxity. Interestingly, this patient has a deletion that lies just distal to SATB2. The orthopaedic problems have not been reported previously and are possibly an additional feature of this syndrome. Overall, this report provides further evidence that the SATB2 gene is the critical gene in this microdeletion syndrome. In addition, because the individuals in this study range in age from 3-19 years, these patients will help define the natural progression of the phenotype in patients with this microdeletion.
authors.affiliation: Sheffield Clinical Genetics Service, Sheffield NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK. meena.balasubramanian@nhs.net
authors.forename: M
authors.initials: M
authors.lastname: Balasubramanian
authors.forename: K
authors.initials: K
authors.lastname: Smith
authors.forename: L
authors.initials: L
authors.lastname: Basel-Vanagaite
authors.forename: M F
authors.initials: MF
authors.lastname: Feingold
authors.forename: P
authors.initials: P
authors.lastname: Brock
authors.forename: G C
authors.initials: GC
authors.lastname: Gowans
authors.forename: P C
authors.initials: PC
authors.lastname: Vasudevan
authors.forename: L
authors.initials: L
authors.lastname: Cresswell
authors.forename: E J
authors.initials: EJ
authors.lastname: Taylor
authors.forename: C J
authors.initials: CJ
authors.lastname: Harris
authors.forename: N
authors.initials: N
authors.lastname: Friedman
authors.forename: R
authors.initials: R
authors.lastname: Moran
authors.forename: H
authors.initials: H
authors.lastname: Feret
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
authors.forename: A
authors.initials: A
authors.lastname: Theisen
authors.forename: J A
authors.initials: JA
authors.lastname: Rosenfeld
authors.forename: M J
authors.initials: MJ
authors.lastname: Parker
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D036961:Matrix Attachment Region Binding Proteins / Q000235:genetics; D010641:Phenotype; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D055815:Young Adult
chemical_list: D036961:Matrix Attachment Region Binding Proteins; C521297:SATB2 protein, human; D014157:Transcription Factors