title: A novel locus for congenital simple microphthalmia family mapping to 17p12-q12.
abstract: OBJECTIVE
  To investigate the etiology in a family with autosomal-dominant congenital simple microphthalmia of Chinese origin.
  
  
  METHODS
  A whole-genome scan was performed by using 382 microsatellite DNA markers after the exclusion of reported candidates linked to microphthalmia. Additional fluorescent markers were genotyped for fine mapping. To find out the novel predisposing gene, 14 candidate genes including CRYBA1 and NCOR1 were selected to screen for the mutation by the PCR direct-sequencing method. Genome-wide single-nucleotide polymorphism (SNP) genotyping was performed to find out the pathogenetic copy number variation, as well.
  
  
  RESULTS
  The most statistically significant linkage results were obtained at D17S1824 (maximum LOD score, 4.97, at recombination fraction 0.00). Haplotype analyses supported the location of the disease-causing gene to a 21.57-cM interval between loci D17S900 and D17S1872 of chromosome 17, region p12-q12. However, no mutation or CNV (copy number variation) was identified to be responsible for the microphthalmia phenotype of this pedigree.
  
  
  CONCLUSIONS
  A novel suggestive linkage locus for congenital microphthalmia was detected in a Chinese family. This linkage region provides a target for susceptibility gene identification.
authors.affiliation: The State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Zhengmao
authors.initials: Z
authors.lastname: Hu
authors.forename: Changhong
authors.initials: C
authors.lastname: Yu
authors.forename: Jingzhi
authors.initials: J
authors.lastname: Li
authors.forename: Yiqiang
authors.initials: Y
authors.lastname: Wang
authors.forename: Deyuan
authors.initials: D
authors.lastname: Liu
authors.forename: Xinying
authors.initials: X
authors.lastname: Xiang
authors.forename: Wei
authors.initials: W
authors.lastname: Su
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Lixin
authors.initials: L
authors.lastname: Xie
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
mesh_terms: D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D056426:Genetic Loci; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D008850:Microphthalmos / Q000235:genetics*; D018895:Microsatellite Repeats; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide