The power of homozygosity mapping: Discovery of new genetic defects in patients with retinal dystrophy

Advances in Experimental Medicine and Biology

Volumn 723, Issue , 2012, Pages 345-351

  Littink, Karin W ^a,b   Den Hollander, Anneke I ^b,c   Cremers, Frans P M ^b,c   Collin, Rob W J ^b,c  

^a ROTTERDAM EYE HOSPITAL   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cone Rod Dystrophy; Gene Identification; Homozygosity Mapping; Identity By Descent; Mutation; Nonconsanguineous; Retinal Dystrophy; Retinitis Pigmentosa

Indexed keywords

GENOMIC DNA;

ABCA4 GENE; ANALYTIC METHOD; C2ORF71 GENE; CONFERENCE PAPER; DNA SCREENING; FAMILY STUDY; GENE; GENE MAPPING; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; GENOTYPE; HOMOZYGOSITY MAPPING; HUMAN; IMPG2 GENE; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; POPULATION GENETICS; PRIORITY JOURNAL; RETINA DYSTROPHY; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME MAPPING; FAMILY HEALTH; GENETIC TESTING; HOMOZYGOTE; HUMANS; PEDIGREE; RETINAL DYSTROPHIES;

EID: 84855931062     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4614-0631-0_45     Document Type: Conference Paper

References (16)

1. Bandah-Rozenfeld D, Collin RWJ, Banin E et al (2010) Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet 87:199-208
2. Berger W, Kloeckener-Gruissem B, Neidhardt J (2010) The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res 29:335-375
3. Collin RWJ, Littink KW, Klevering BJ et al (2008) Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am J Hum Genet 83:594-603
4. Collin RWJ, Safieh C, Littink KW et al (2010) Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet 86:783-788
5. Collin RWJ, van den Born LI, Klevering BJ et al (2011) High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative for autosomal recessive RP in the Dutch population. Invest Ophthalmol Vis Sci 52:2227-2239
6. Connell F, Kalidas K, Ostergaard P et al (2010) Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. Hum Genet 127:231-241
7. den Hollander AI, Lopez I, Yzer S et al (2007) Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmol Vis Sci 48:5690-5698 (Pubitemid 351260873)
8. Hamanoue H, Megarbane A, Tohma T et al (2009) A locus for ophthalmo-acromelic syndrome mapped to 10p11.23. Am J Med Genet A 149A:336-342
9. Krawitz PM, Schweiger MR, Rodelsperger C et al (2010) Identity-by-descent filtering of exome sequence data identifi es PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet 42:827-829
10. Littink KW, Koenekoop RK, van den Born LI et al (2010) Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci 51:5943-5951
11. Maugeri A, van Driel MA, van de Pol DJ et al (1999) The 2588G->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet 64: 1024-1035 (Pubitemid 30463033)
12. McQuillan R, Leutenegger AL, Abdel-Rahman R et al (2008) Runs of homozygosity in European populations. Am J Hum Genet 83:359-372
13. Megarbane A, Slim R, Nurnberg G et al (2009) A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. Eur J Hum Genet 17: 1076-1079
14. Nikopoulos K, Gilissen C, Hoischen A et al (2010) Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet 86:240-247
15. Ruiz A, Borrego S, Marcos I, Antinolo G (1998) A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. Am J Hum Genet 62:1452-1459 (Pubitemid 28307115)
16. Woods CG, Cox J, Springell K et al (2006) Quantifi cation of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet 78:889-896