1p31.1 microdeletion including only NEGR1 gene in two patients

Elisa Tassano, Sara Uccella, Thea Giacomini, Patrizia Fiorio, Elisa Tavella, Michela Malacarne, Giorgio Gimelli, Domenico Coviello, Patrizia Ronchetto

Research output: Contribution to journalArticlepeer-review

Abstract

Neuronal growth regulator 1 (NEGR1), a member of the immunoglobulin superfamily cell adhesion molecule subgroup IgLON, has been involved in neuronal growth and connectivity. Genetic variants, in or near the NEGR1 locus, have been associated with obesity and, more recently, with learning difficulties, intellectual disability, and psychiatric disorders. Here, we described the only second report of NEGR1 gene disruption in 1p31.1 microdeletion in two patients. Patient 1 is a 14-year-old female with neurological and psychiatric features present also in her family. Patient 2 is a 5-month-old infant showing global hypotonia as unique neurological features till now. This patient also carries 7p22.1 duplication, of paternal origin, that could be responsible for some malformations present in the child. We hypothesize a role of NEGR1 in producing the phenotype of our patients and compare them with other cases previously reported in the literature and DECIPHER database to better identify a possible genotype-phenotype correlation.

Original languageEnglish
Pages (from-to)103919
JournalEur. J. Med. Genet.
Volume63
Issue number6
DOIs
Publication statusPublished - Jun 2020

Keywords

  • Adolescent
  • Cell Adhesion Molecules, Neuronal/genetics
  • Chromosomes, Human, Pair 1/genetics
  • Female
  • GPI-Linked Proteins/genetics
  • Gene Deletion
  • Humans
  • Infant
  • Male
  • Mental Disorders/genetics
  • Nervous System Diseases/genetics
  • Phenotype

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