title: A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.
abstract: We report a 3.1-Mb de novo deletion of 3p21.31 in a 3.5-year-old female with cortical blindness, cleft lip, CNS abnormalities, and gross developmental delays. Examination of the region showed approximately 80 genes to be involved in the deletion. Functional analysis of the deleted genes suggests that several of them may be important in normal neuronal maturation and function. Thus, haploinsufficiency of one or more of these genes could potentially contribute to the observed phenotype. Our patient does not have clinical features that overlap completely with either proximal or distal 3p deletions, suggesting that the deletion seen in our patient leads to a distinct clinical phenotype not described previously.
authors.affiliation: Division of Human Genetics, Bioinformatics Core, Center for Applied Genomics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
authors.forename: Chad R
authors.initials: CR
authors.lastname: Haldeman-Englert
authors.forename: Xiaowu
authors.initials: X
authors.lastname: Gai
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Perin
authors.forename: Melissa
authors.initials: M
authors.lastname: Ciano
authors.forename: Sara S
authors.initials: SS
authors.lastname: Halbach
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Geiger
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: Hakon
authors.initials: H
authors.lastname: Hakonarson
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Tamim H
authors.initials: TH
authors.lastname: Shaikh
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D019575:Blindness, Cortical / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology; D002893:Chromosomes, Human, Pair 3; D002971:Cleft Lip / Q000235:genetics; D000013:Congenital Abnormalities / Q000235:genetics*; D015342:DNA Probes; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D013997:Time Factors
chemical_list: D015342:DNA Probes