Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 150, Issue 7, 2009, Pages 993-997

  Paisán Ruiz, Coro ^a,d   Scopes, Geoff ^b   Lee, Philip ^c   Houlden, Henry ^c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Thermo Fisher Scientific   (United States)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d Queen Square House ^*  (United Kingdom)

Author keywords

Autosomal recessive; COL181A; Epilepsy; Genome wide genotyping; Homozygosity mapping

Indexed keywords

ADULT; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; CASE REPORT; COGNITIVE DEFECT; COL18A1 GENE; COMPUTER MODEL; EPILEPSY; FAMILY; FEMALE; GENE; GENE MAPPING; GENE MUTATION; GENETIC DISORDER; GENOME ANALYSIS; GENOTYPE; HOMOZYGOSITY; HUMAN; INDIAN; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL DISORDER;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHROMOSOMES, HUMAN; COLLAGEN TYPE XVIII; FEMALE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; HUMANS; INDIA; LOSS OF HETEROZYGOSITY; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NERVOUS SYSTEM DISEASES; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SOFTWARE;

EID: 70349335966     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30929     Document Type: Article

References (10)

1. Deininger MH, Fimmen BA, Thal DR, Schluesener HJ, Meyermann R. 2002. Aberrant neuronal and paracellular deposition of endostatin in brains of patients with Alzheimer's disease. J Neurosci 22(24): 10621-10626. (Pubitemid 36005135)
2. Gibbs JR, Singleton A. 2006. Application of genome-wide single nucleotide polymorphism typing: Simple association and beyond. PLoS Genet 2(10):e150. (Pubitemid 44656526)
3. Kennedy GC, Matsuzaki H, Dong S, LiuWM,Huang J, Liu G, Su X, Cao M, Chen W, Zhang J, et al. 2003. Large-scale genotyping of complex DNA. Nat Biotechnol 21(10):1233-1237.
4. Keren B, Suzuki OT, Gerard-Blanluet M, Bremond-Gignac D, Elmaleh M, Titomanlio L, Delezoide AL, Passos-Bueno MR, Verloes A. 2007. CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. Am J Med Genet Part A 143(13):1514-1518. (Pubitemid 47051032)
5. Kliemann SE, Waetge RT, Suzuki OT, Passos-Bueno MR, Rosemberg S. 2003. Evidence of neuronal migration disorders in Knobloch syndrome: Clinical and molecular analysis of two novel families. Am J Med Genet Part A 119(1):15-19. (Pubitemid 37063908)
6. Knolboch WH, Layer JM. 1971. Retinal detachment and encephalocele. J Pediatr Ophthal 8:181-184.
7. O'Reilly MS, Boehm T, Shing Y, Fukai N, Vasios G, Lane WS, Flynn E, Birkhead JR, Olsen BR, Folkman J. 1997. Endostatin: An endogenous inhibitor of angiogenesis and tumor growth. Cell 88(2):277-285. (Pubitemid 28015876)
8. Sertie AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR. 2000. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Hum Mol Genet 9(13):2051-2058. (Pubitemid 30642670)
9. Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K, et al. 2007. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet 16(1):1-14. (Pubitemid 46152540)
10. Suzuki OT, Sertie AL, Der Kaloustian VM, Kok F, Carpenter M, Murray J, Czeizel AE, Kliemann SE, Rosemberg S, Monteiro M, et al. 2002. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. Am J Hum Genet 71(6):1320-1329. (Pubitemid 36015887)