Various types of LRP5 mutations in four patients with osteoporosis- pseudoglioma syndrome: Identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 133-140

  Narumi, Satoshi ^a   Numakura, Chikahiko ^b   Shiihara, Takashi ^b,c   Seiwa, Chizuru ^d   Nozaki, Yasuyuki ^e   Yamagata, Takanori ^e   Momoi, Mariko Y ^e   Watanabe, Yoriko ^f   Yoshino, Makoto ^f   Matsuishi, Toyojiro ^f   Nishi, Eriko ^g   Kawame, Hiroshi ^g   Akahane, Tsutomu ^h   Nishimura, Gen ⁱ   Emi, Mitsuru ^j   Hasegawa, Tomonobu ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b YAMAGATA UNIVERSITY   (Japan)

^c Gumna Children S Medical Center   (Japan)

^d Yamagata Prefectural Comprehensive Rehabilitation and Education Center   (Japan)

^e JICHI MEDICAL UNIVERSITY   (Japan)

^f KURUME UNIVERSITY   (Japan)

^g NAGANO CHILDREN'S HOSPITAL   (Japan)

^h Nagano National Hospital   (Japan)

ⁱ TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^j DNA CHIP RESEARCH INC   (Japan)

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Author keywords

Comparative genomic hybridization; Low density lipoprotein receptor related protein 5 (LRP5); Microdeletion; Mutation; Osteoporosis pseudoglioma syndrome

Indexed keywords

DNA; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; MESSENGER RNA;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME DELETION; DNA MICROARRAY; DNA SEQUENCE; EXON; GENE DELETION; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HUMAN; JAPANESE; JUVENILE OSTEOPOROSIS; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NORRIE DISEASE; OSTEOPOROSIS PSEUDOGIOMA SYNDROME; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SCHOOL CHILD; SITE DIRECTED MUTAGENESIS; VISUAL DISORDER; CONTROLLED STUDY; GENE EXPRESSION; GENE FREQUENCY; GENE INSERTION; HETEROZYGOSITY; INTRON; OSTEOPOROSIS;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; DNA PRIMERS; FEMALE; GLIOMA; HUMANS; LDL-RECEPTOR RELATED PROTEINS; MALE; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OSTEOPOROSIS; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE DELETION; SYNDROME;

EID: 75149112678     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33177     Document Type: Article

References (23)

1. Ai M, Heeger S, Bartels CF, Schelling DK. 2005. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. Am J Hum Genet 77:741-753.
2. Barrett MT, Scheffer A, Ben-Dor A, Sampas N, Lipson D, Kincaid R, Tsang P, Curry B, Baird K, Meltzer PS, Yakhini Z, Bruhn L, Laderman S. 2004. Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc Natl Acad Sci USA 101: 17765-17770.
3. Chung BD, Kayserili H, Ai M, Freudenberg J, Uzumcu A, Uyguner O, Bartels CF, Honing S, Ramirez A, Hanisch FG, Nurnberg G, Nurnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C. 2009. A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats. Hum Mutat 30:641-648.
4. Cummings SR, Melton LJ. 2002. Epidemiology and outcomes of osteoporotic fractures. Lancet 359:1761-1767.
5. de Smith AJ, Tsalenko A, Sampas N, Scheffer A, Yamada NA, Tsang P, Ben-Dor A, Yakhini Z, Ellis RJ, Bruhn L, Laderman S, Froguel P, Blakemore AI. 2007. Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: Implications for association studies of complex diseases. Hum Mol Genet 16:2783-2794.
6. Frontali M, Stomeo C, Dallapiccola B. 1985. Osteoporosis-pseudoglioma syndrome: Report of three affected sibs and an overview.AmJMedGenet 22:35-47.
7. Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Juppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML. 2001. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107:513-523.
8. Jiao X, Ventruto V, Trese MT, Shastry BS, Hejtmancik JF. 2004. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. Am J Hum Genet 75:878-884.
9. Koay MA, Woon PY, Zhang Y, Miles LJ, Duncan EL, Ralston SH, Compston JE, Cooper C, Keen R, Langdahl BL, MacLelland A,O'Riordan J, Pols HA, Reid DM, Uitterlinden AG, Wass JA, Brown MA. 2004. Influence of LRP5 polymorphisms on normal variation in BMD. J Bone Miner Res 19:1619-1627.
10. Koller DL, Ichikawa S, Johnson ML, Lai D, Xuei X, Edenberg HJ, Conneally PM, Hui SL, Johnston CC, Peacock M, Foroud T, Econs MJ. 2005. Contribution of the LRP5 gene to normal variation in peak BMD in women. J Bone Miner Res 20:75-80.
11. Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura K. 2004. LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. J Hum Genet 49:80-86.
12. Nishiyama S, Kiwaki K, Inomoto T, Seino Y. 1999. Bone mineral density of the lumber spine and total body mass in Japanese children and adolescents. J Jpn Pediatr Soc 103:1131-1138.
13. Perry GH, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, Tran CW,Scheffer A, Steinfeld I, Tsang P, Yamada NA, Park HS,KimJI, Seo JS, Yakhini Z, Laderman S, Bruhn L, Lee C. 2008. The fine-scale and complex architecture of human copy-number variation. Am J Hum Genet 82: 685-695.
14. Pinson KI, Brennan J, Monkley S, Avery BJ, Skarnes WC. 2000. An LDL-receptor-related protein mediates Wnt signalling in mice. Nature 407: 535-538.
15. Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H. 2005. Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. Hum Mutat 26:104-112.
16. Richards JB, Rivadeneira F, Inouye M, Pastinen TM, Soranzo N, Wilson SG, Andrew T, Falchi M, Gwilliam R, Ahmadi KR, Valdes AM, Arp P, Whittaker P, Verlaan DJ, Jhamai M, Kumanduri V, Moorhouse M, van Meurs JB, Hofman A, Pols HA, Hart D, Zhai G, Kato BS, Mullin BH, Zhang F, Deloukas P, Uitterlinden AG, Spector TD. 2008. Bone mineral density, osteoporosis, and osteoporotic fractures: A genome-wide association study. Lancet 371:1505-1512.
17. Tamai K, Semenov M, Kato Y, Spokony R, Liu C, Katsuyama Y, Hess F, Saint-Jeannet JP, He X. 2000. LDL-receptor-related proteins in Wnt signal transduction. Nature 407:530-535.
18. Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF. 2004. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet 74:721-730.
19. Urano T, Shiraki M, Ezura Y, Fujita M, Sekine E, Hoshino S, Hosoi T, Orimo H, Emi M, Ouchi Y, Inoue S. 2004. Association of a single-nucleotide polymorphism in low-density lipoprotein receptor-related protein 5 gene with bone mineral density. J Bone Miner Metab 22: 341-345.
20. van Meurs JB, Rivadeneira F, Jhamai M, Hugens W, Hofman A, van Leeuwen JP, Pols HA, Uitterlinden AG. 2006. Common genetic variation of the low-density lipoprotein receptor-related protein 5 and 6 genes determines fracture risk in elderly white men. J Bone Miner Res 21: 141-150.
21. Warden SM, Andreoli CM, Mukai S. 2007. The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease. Semin Ophthalmol 22:211-217.
22. Wehrli M, Dougan ST, Caldwell K, O'Keefe L, Schwartz S, Vaizel-Ohayon D, Schejter E, Tomlinson A, DiNardo S. 2000. arrow encodes an LDL-receptor-related protein essential for Wingless signalling. Nature 407:527-530.
23. Zhang ZF, Ruivenkamp C, Staaf J, Zhu H, Barbaro M, Petillo D, Khoo SK, Borg A, Fan YS, Schoumans J. 2008. Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: A validation of the practical performance of different array platforms. Eur JHum Genet 16:786-792.