Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X region

Psychiatr Genet. 2005 Jun;15(2):83-90. doi: 10.1097/00041444-200506000-00004.

Abstract

The higher prevalence of autism in males than in females suggests the possible involvement of the X chromosome. To test the hypothesis that there are mutations increasing susceptibility to autism on the X chromosome, and in particular the distal portion of the long arm that encompasses the FMRI and MECP2 loci, a genetic linkage study was performed. Twenty-two fragile X-negative families multiplex for autism and related disorders were used for the study. Linkage analysis, for markers in the Xq27-q28 region, using model-free likelihood-based analysis, produced a maximum MLOD of 1.7 for the narrowest diagnostic category of the typical autism/severe autism spectrum, and nonparametric analysis produced a maximum non-parametric lod (NPL) score of 2.1 for a broad phenotype diagnostic model. Thus, this study offers modest support for a susceptibility locus for autism within the Xq27-q28 region. Further genetic investigations of this region are warranted.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autistic Disorder / genetics*
  • Chromosomal Proteins, Non-Histone / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, X*
  • DNA-Binding Proteins / genetics*
  • Female
  • Fragile X Mental Retardation Protein
  • Genetic Predisposition to Disease
  • Humans
  • Likelihood Functions
  • Male
  • Methyl-CpG-Binding Protein 2
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Phenotype
  • RNA-Binding Proteins / genetics*
  • Repressor Proteins / genetics*
  • Statistics, Nonparametric

Substances

  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • FMR1 protein, human
  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Repressor Proteins
  • Fragile X Mental Retardation Protein