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

Eur J Med Genet. 2020 Jun;63(6):103919. doi: 10.1016/j.ejmg.2020.103919. Epub 2020 Mar 21.

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.

Keywords: 1p31.1 microdeletion; Array-CGH; NEGR1; Neurological and psychiatric features.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Cell Adhesion Molecules, Neuronal
  • GPI-Linked Proteins
  • NEGR1 protein, human