title: Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
abstract: Interstitial deletions of 6q are rare. We report a detailed clinical and molecular characterization of four patients with interstitial deletion involving 6q25. All of our patients presented with microcephaly, developmental delay, dysmorphic features and hearing loss, whereas two of them had agenesis of the corpus callosum. We determined the size, extent and genomic content of the deletions using high-density array-comparative genomic hybridization (a-CGH), and found that a common segment spanning 3.52 Mb within the 6q25.2-q25.3 region was deleted in all four cases. We hypothesize that a subset of genes in the commonly deleted region are dosage sensitive and that haploinsufficieny of these genes impairs normal development of the brain and hearing.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Sandesh Chakravarthy Sreenath
authors.initials: SC
authors.lastname: Nagamani
authors.forename: Ayelet
authors.initials: A
authors.lastname: Erez
authors.forename: Christine
authors.initials: C
authors.lastname: Eng
authors.forename: Zhishuo
authors.initials: Z
authors.lastname: Ou
authors.forename: Craig
authors.initials: C
authors.lastname: Chinault
authors.forename: Laura
authors.initials: L
authors.lastname: Workman
authors.forename: James
authors.initials: J
authors.lastname: Coldwell
authors.forename: Pawel
authors.initials: P
authors.lastname: Stankiewicz
authors.forename: Ankita
authors.initials: A
authors.lastname: Patel
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.forename: Sau Wai
authors.initials: SW
authors.lastname: Cheung
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods; D002658:Developmental Disabilities / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005260:Female; D034381:Hearing Loss / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008831:Microcephaly / Q000473:pathology*; D019255:NADPH Oxidases / Q000235:genetics; D013577:Syndrome
chemical_list: D008565:Membrane Proteins; D019255:NADPH Oxidases; C431570:Nox3 protein, human