title: A novel single base pair duplication in WDR62 causes primary microcephaly.
abstract: BACKGROUND
  Primary microcephaly is a disorder of the brain resulting in a reduced head circumference that can come along with intellectual disability but with hardly any other neurological abnormalities.
  
  
  METHODS
  In this study we report on three Pakistani males from a consanguineous family with 2, 4 and 25 years, diagnosed with autosomal recessive primary microcephaly. By genotyping, Sanger sequencing and using bioinformatical approaches the disease causing mutation was identified and evaluated.
  
  
  CONCLUSIONS
  By using a 250K SNP array, we were able to detect an 11Mb large autozygous region in the MCPH2 locus on chromosome 19q13.12. Sequencing of the associated gene, WDR62, revealed the frameshift causing single base pair duplication, c.2527dupG. This mutation is predicted to affect the structural features of WDR62 which in turn changes the conformation and function of the protein. Aspartic acid (D) at position 843 was found to be conserved among various ortholog species. The present findings will be helpful in genetic diagnosis of patients and future studies of WDR62.
authors.forename: Verena
authors.initials: V
authors.lastname: Rupp
authors.forename: Sobiah
authors.initials: S
authors.lastname: Rauf
authors.forename: Ishrat
authors.initials: I
authors.lastname: Naveed
authors.forename: Christian
authors.initials: C
authors.lastname: Windpassinger
authors.forename: Asif
authors.initials: A
authors.lastname: Mir
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D018797:Cell Cycle Proteins; D002675:Child, Preschool; D002888:Chromosomes, Human, Pair 19; D020440:Gene Duplication; D005838:Genotype; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: D018797:Cell Cycle Proteins; D009419:Nerve Tissue Proteins; C552527:WDR62 protein, human