A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1

Eur J Med Genet. 2011 Jul-Aug;54(4):e461-4. doi: 10.1016/j.ejmg.2011.04.006. Epub 2011 Apr 29.

Abstract

We report a 21-year-old patient with speech problems, autistic traits, dysmorphic facial features, broad thumbs with short distal phalanges and a pancreatic gastrinoma. Array-CGH demonstrated a 0.57 Mb de novo deletion in chromosome 11q13.1. The deleted region contains several genes which likely contribute to the patient's complex phenotype, including the MEN1 gene. The deletion of the MEN1 gene is causing multiple endocrine neoplasia type 1 (MEN1). The neurodevelopmental phenotype of the patient might be associated with the deletion of the genes NRXN2 and PPP2R5B which have been described to be involved in synaptogenesis and dendritic branching. According to our knowledge, we report for the first time a patient with the combination of a neurodevelopmental phenotype and MEN1 caused by a microdeletion on chromosome 11.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adult
  • Autistic Disorder / diagnosis
  • Autistic Disorder / genetics*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 11 / genetics
  • Humans
  • Male
  • Multiple Endocrine Neoplasia Type 1 / diagnosis
  • Multiple Endocrine Neoplasia Type 1 / genetics*
  • Phenotype
  • Speech Disorders / diagnosis
  • Speech Disorders / genetics*
  • Young Adult

Supplementary concepts

  • Chromosome 11q partial deletion