Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment

Elisa Tassano, Alessandra Gamucci, Maria E. Celle, Patrizia Ronchetto, Cristina Cuoco, Giorgio Gimelli

Research output: Contribution to journalArticlepeer-review

Abstract

Interstitial 1p deletions are rare events. Very few cases of 1p31.1p31.3 deletions characterized by variable phenotypes have been reported. No clear genotype-phenotype correlation has been determined yet. We present a child with a de novo interstitial 1p31.1p31.3 deletion, identified by array CGH, associated with intellectual disability and severe language impairment. The deleted region contains 20 OMIM genes, but we focused on GADD45A (MIM 126335; growth arrest- and DNA damage-inducible gene), LRRC7 (MIM 614453; leucine-rich repeat-containing protein 7), and NEGR1 (MIM 613173; neuronal growth regulator 1). We discuss whether these genes play a role in determining the phenotype of our patient in order to investigate the possibility of a genotype-phenotype correlation.

Original languageEnglish
Pages (from-to)39-43
Number of pages5
JournalCytogenetic and Genome Research
Volume146
DOIs
Publication statusPublished - Sep 20 2015

Keywords

  • Deletion 1p31.1p31.3
  • Intellectual disability
  • Severe language impairment

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology

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