title: 3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases.
abstract: To date, few cases of 3p proximal interstitial deletions have been reported and the phenotype and genotype correlation is not well understood. Here, we report a new case of a 3p proximal interstitial deletion. The patient is an 11-year-old female with speech and social interaction difficulties, learning disability, and slight facial dysmorphism, but no other major malformations. An 8 Mb de novo interstitial deletion at 3p14.2-p14.1, from position 60.461.316 to 68.515.453, was revealed by means of array comparative genomic hybridization and confirmed using quantitative reverse-transcription polymerase chain reaction assays. This region includes six genes: FEZF2, CADPS, SYNPR, ATXN7, PRICKLE, and MAGI1, that are known to have a role in neurodevelopment. These genes are located on the proximal side of the deletion. We compare our case with previously well-defined patients reported in the literature and databases.
authors.affiliation: Plataforma de Genética Genómica, Instituto de Investigación Sanitaria BioCruces (IIS BioCruces), Hospital Universitario Cruces, Barakaldo, 48903 Bizkaia, Spain ; GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), 28029 Madrid, Spain.
authors.forename: Ana Belén
authors.initials: AB
authors.lastname: de la Hoz
authors.affiliation: GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), 28029 Madrid, Spain ; Laboratorio de Genética Molecular, Servicio de Genética, IIS BioCruces, Hospital Universitario Cruces, Barakaldo, 48903 Bizkaia, Spain.
authors.forename: Hiart
authors.initials: H
authors.lastname: Maortua
authors.affiliation: GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), 28029 Madrid, Spain ; Sección de Neuropediatría del Servicio de Pediatría, IIS BioCruces, Hospital Universitario Cruces, Barakaldo, 48903 Bizkaia, Spain.
authors.forename: Ainhoa
authors.initials: A
authors.lastname: García-Rives
authors.affiliation: GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), 28029 Madrid, Spain ; Sección de Neuropediatría del Servicio de Pediatría, IIS BioCruces, Hospital Universitario Cruces, Barakaldo, 48903 Bizkaia, Spain.
authors.forename: María Jesús
authors.initials: MJ
authors.lastname: Martínez-González
authors.affiliation: Plataforma de Genética Genómica, Instituto de Investigación Sanitaria BioCruces (IIS BioCruces), Hospital Universitario Cruces, Barakaldo, 48903 Bizkaia, Spain ; Laboratorio de Genética Molecular, Servicio de Genética, IIS BioCruces, Hospital Universitario Cruces, Barakaldo, 48903 Bizkaia, Spain.
authors.forename: Maitane
authors.initials: M
authors.lastname: Ezquerra
authors.affiliation: GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), 28029 Madrid, Spain ; Laboratorio de Genética Molecular, Servicio de Genética, IIS BioCruces, Hospital Universitario Cruces, Barakaldo, 48903 Bizkaia, Spain.
authors.forename: María-Isabel
authors.initials: MI
authors.lastname: Tejada