Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism

Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):343-8. doi: 10.1073/pnas.1309475110. Epub 2013 Dec 16.

Abstract

We used a family-based cluster detection approach designed to localize significant rare disease-risk variants clusters within a region of interest to systematically search for schizophrenia (SCZ) susceptibility genes within 49 genomic loci previously implicated by de novo copy number variants. Using two independent whole-exome sequencing family datasets and a follow-up autism spectrum disorder (ASD) case/control whole-exome sequencing dataset, we identified variants in one gene, Fanconi-associated nuclease 1 (FAN1), as being associated with both SCZ and ASD. FAN1 is located in a region on chromosome 15q13.3 implicated by a recurrent copy number variant, which predisposes to an array of psychiatric and neurodevelopmental phenotypes. In both SCZ and ASD datasets, rare nonsynonymous risk variants cluster significantly in affected individuals within a 20-kb window that spans several key functional domains of the gene. Our finding suggests that FAN1 is a key driver in the 15q13.3 locus for the associated psychiatric and neurodevelopmental phenotypes. FAN1 encodes a DNA repair enzyme, thus implicating abnormalities in DNA repair in the susceptibility to SCZ or ASD.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Autistic Disorder / genetics*
  • Chromosomes, Human, Pair 15*
  • Cluster Analysis
  • Computer Simulation
  • DNA Repair
  • Endodeoxyribonucleases
  • Exodeoxyribonucleases / genetics*
  • Exome
  • Female
  • Genetic Markers
  • Genetic Predisposition to Disease*
  • Genetic Variation
  • Humans
  • Male
  • Molecular Sequence Data
  • Multifunctional Enzymes
  • Nucleotides / genetics
  • Phenotype
  • Risk
  • Schizophrenia / genetics*
  • Sequence Homology, Amino Acid
  • South Africa
  • United States

Substances

  • Genetic Markers
  • Multifunctional Enzymes
  • Nucleotides
  • Endodeoxyribonucleases
  • Exodeoxyribonucleases
  • FAN1 protein, human