title: Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
abstract: Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydrocephalus, periventricular nodular heterotopia, and cerebellar malformations. The 6q27 region harbors genes that are important for the normal development of brain and delineation of a critical deletion region for structural brain abnormalities may lead to a better genotype-phenotype correlation. We conducted a detailed clinical and molecular characterization of seven unrelated patients with deletions involving chromosome 6q27. All patients had structural brain abnormalities. Using array comparative genomic hybridization, we mapped the size, extent, and genomic content of these deletions. The smallest region of overlap spans 1.7 Mb and contains DLL1, THBS2, PHF10, and C6orf70 (ERMARD) that are plausible candidates for the causation of structural brain abnormalities. Our study reiterates the importance of 6q27 region in normal development of brain and helps identify putative genes in causation of structural brain anomalies.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Sirisha
authors.initials: S
authors.lastname: Peddibhotla
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Sandesh C S
authors.initials: SC
authors.lastname: Nagamani
authors.affiliation: 1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Department of Biological Regulation, Weizmann Institute of Science, Rehovot, Israel.
authors.forename: Ayelet
authors.initials: A
authors.lastname: Erez
authors.affiliation: Department of Radiology, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Jill V
authors.initials: JV
authors.lastname: Hunter
authors.affiliation: 1] Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA [2] Texas Children's Hospital, Houston, TX, USA.
authors.forename: J Lloyd
authors.initials: JL
authors.lastname: Holder
authors.affiliation: Department of Pediatrics, University of Texas, Southwestern Medical Center, Dallas, TX, USA.
authors.forename: Mary E
authors.initials: ME
authors.lastname: Carlin
authors.affiliation: Parkview Cytogenetics and Northeast Indiana Genetic Counseling Center, Fort Wayne, IN, USA.
authors.forename: Patricia I
authors.initials: PI
authors.lastname: Bader
authors.affiliation: Regional Genetics Program, Conseillère en génétique agréée, Programme régional de Génétique, Ottawa, Ontario, Canada.
authors.forename: Helene M F
authors.initials: HM
authors.lastname: Perras
authors.affiliation: Regional Genetics Program, Conseillère en génétique agréée, Programme régional de Génétique, Ottawa, Ontario, Canada.
authors.forename: Judith E
authors.initials: JE
authors.lastname: Allanson
authors.affiliation: Scott and White Memorial Hospital, Temple, TX, USA.
authors.forename: Leslie
authors.initials: L
authors.lastname: Newman
authors.affiliation: Especially for Children, Austin, TX, USA.
authors.forename: Gayle
authors.initials: G
authors.lastname: Simpson
authors.affiliation: Especially for Children, Austin, TX, USA.
authors.forename: LaDonna
authors.initials: L
authors.lastname: Immken
authors.affiliation: Department of Pediatrics, Vanderbilt School of Medicine, Nashville, TN, USA.
authors.forename: Erin
authors.initials: E
authors.lastname: Powell
authors.affiliation: Department of Neurosurgery, University of Texas Medical Branch, Galveston, TX, USA.
authors.forename: Aaron
authors.initials: A
authors.lastname: Mohanty
authors.affiliation: 1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Allina Medical Laboratories, Minneapolis, MN, USA.
authors.forename: Sung-Hae L
authors.initials: SH
authors.lastname: Kang
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Pawel
authors.initials: P
authors.lastname: Stankiewicz
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Bacino
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Weimin
authors.initials: W
authors.lastname: Bi
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Ankita
authors.initials: A
authors.lastname: Patel
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Sau W
authors.initials: SW
authors.lastname: Cheung
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D010641:Phenotype
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