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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language
Ana Belén de la Hoz1, Hiart Maortua2, Ainhoa García-Rives3
1Plataforma 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.
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.
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