Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins

Eur J Med Genet. 2013 May;56(5):274-7. doi: 10.1016/j.ejmg.2013.02.005. Epub 2013 Feb 27.

Abstract

Deletions in 15q13.3 belong to the most frequently identified recurrent CNVs, and lead to mental retardation, seizures and minor dysmorphism. We report on two monozygotic twin boys with a mosaic 1.5 Mb deletion in 15q13.3, including CHRNA7. The growth parameters were in the normal range for both twins. Both had language delay with hyperactivity, temper tantrums and poor social interaction but attended regular school. The percentage of abnormal cells was 40% on lymphocytes, and 25 and 35% on buccal smear in the first and second twins, respectively. The mosaicism for the 15q13.3 deletion can explain the milder phenotype observed in these two boys.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15 / genetics*
  • Comparative Genomic Hybridization
  • Gene Rearrangement
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology
  • Lymphocyte Culture Test, Mixed
  • Male
  • Mosaicism*
  • Phenotype
  • Seizures / genetics
  • Seizures / pathology
  • Twins, Monozygotic / genetics*
  • alpha7 Nicotinic Acetylcholine Receptor / genetics*

Substances

  • Chrna7 protein, human
  • alpha7 Nicotinic Acetylcholine Receptor