title: Language Impairment Resulting from a de novo Deletion of 7q32.1q33.
abstract: We report on a girl who presents with hearing loss, behavioral disturbances (according to the Inventory for Client and Agency Planning) as well as motor and cognitive delay (according to Battelle Developmental Inventories) which have a significant impact on her speech and language abilities [according to the Peabody Picture Vocabulary Test (ed 3), and the Prueba de Lenguaje Oral de Navarra-Revisada (Navarra Oral Language Test, Revised)]. Five copy number variations (CNVs) were identified in the child: arr[hg18] 7q32.1q33(127109685-132492196)×1, 8p23.1(7156900-7359099) ×1, 15q13.1(26215673-26884937)×1, Xp22.33(17245- 102434)×3, and Xp22.33(964441-965024)×3. The pathogenicity of similar CNVs is mostly reported as unknown. The largest deletion is found in a hot spot for cognitive disease and language impairment and contains several genes involved in brain development and function, many of which have been related to developmental disorders encompassing language deficits (dyslexia, speech-sound disorder, and autism). Some of these genes interact withFOXP2. The proband's phenotype may result from a reduced expression of some of these genes.
authors.affiliation: Department of Psychology, University of Córdoba, Córdoba, Spain; Maimónides Institute of Biomedical Research, University Hospital 'Reina Sofía', Córdoba, Spain.
authors.forename: María S
authors.initials: MS
authors.lastname: Jiménez-Romero
authors.affiliation: Maimónides Institute of Biomedical Research, University Hospital 'Reina Sofía', Córdoba, Spain; Laboratory of Molecular Genetics, University Hospital 'Reina Sofía', Córdoba, Spain.
authors.forename: Montserrat
authors.initials: M
authors.lastname: Barcos-Martínez
authors.affiliation: Maimónides Institute of Biomedical Research, University Hospital 'Reina Sofía', Córdoba, Spain; Laboratory of Molecular Genetics, University Hospital 'Reina Sofía', Córdoba, Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: Espejo-Portero
authors.affiliation: Department of Philology, University of Huelva, Huelva, Spain.
authors.forename: Antonio
authors.initials: A
authors.lastname: Benítez-Burraco
keywords: 7q32.1q33; Behavioral disturbances; Cognitive delay; Copy number variations; Language impairment