Expanding the spectrum of rearrangements involving chromosome 19: A mild phenotype associated with a 19p13.12-p13.13 deletion

Giuseppe Marangi, Daniela Orteschi, Federico Vigevano, Jillian Felie, Christopher A. Walsh, M. Chiara Manzini, Giovanni Neri

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a patient with a 1.2Mb 19p13.12-p13.13 deletion. Compared to previously reported individuals with partially overlapping deletions, the propositus presented with a less severe phenotype, consisting of mild intellectual disability and behavior anomalies, with episodes of simple febrile seizures and without significant physical anomalies or major malformations. The deleted region includes 29 coding genes, some of which have already been demonstrated to be involved in cognitive processes. Mutations in two of them, CC2D1A and TECR, were recently reported to be responsible for non-syndromal, autosomal recessive intellectual disability. The residual alleles of all of these genes were submitted to sequence analysis. No sequence variants were found that could be considered pathogenic. This patient constitutes a further example of the wide phenotypic variability associated with chromosomal rearrangements, likely due to the different size of deleted/duplicated segments.

Original languageEnglish
Pages (from-to)888-893
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number4
DOIs
Publication statusPublished - Apr 2012

Keywords

  • 19p13.12-p13.13 deletion
  • Attention deficit hyperactivity disorder
  • Intellectual disability
  • Phenotypic variability

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Fingerprint Dive into the research topics of 'Expanding the spectrum of rearrangements involving chromosome 19: A mild phenotype associated with a 19p13.12-p13.13 deletion'. Together they form a unique fingerprint.

Cite this