title: The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region.
abstract: The human 3q29 microdeletion syndrome is associated with mild facial dysmorphism, developmental delay and variable congenital malformations. We report three new unrelated patients with this syndrome. We also performed in silico RNA binding analysis in silico on the 3q29 critical region genes. Several genes within this genomic region including DLG1 and RNF168 are predicted to bind RNA. While recessive mutations in RNF168 cause RIDDLE syndrome, an immune deficiency and radiosensitivity disorder, the potential impact of heterozygous deletion of RNF168 on patients with the 3q29 deletion syndrome is still unknown.
authors.affiliation: Department of Pediatrics, University of Kansas Medical Center, Kansas City, USA. mdasouki@kumc.edu
authors.forename: Majed J
authors.initials: MJ
authors.lastname: Dasouki
authors.forename: Gerald H
authors.initials: GH
authors.lastname: Lushington
authors.forename: Karine
authors.initials: K
authors.lastname: Hovanes
authors.forename: James
authors.initials: J
authors.lastname: Casey
authors.forename: Mereceds
authors.initials: M
authors.lastname: Gorre
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D012313:RNA / Q000378:metabolism*; D013577:Syndrome; D055815:Young Adult
chemical_list: D012313:RNA