LRIG2 mutations cause urofacial syndrome

American Journal of Human Genetics

Volumn 92, Issue 2, 2013, Pages 259-264

  Stuart, Helen M ^a   Roberts, Neil A ^a   Burgu, Berk ^b   Daly, Sarah B ^a   Urquhart, Jill E ^a   Bhaskar, Sanjeev ^a   Dickerson, Jonathan E ^a   Mermerkaya, Murat ^b   Silay, Mesrur Selcuk ^c   Lewis, Malcolm A ^a   Olondriz, M Beatriz Orive ^d   Gener, Blanca ^e   Beetz, Christian ^f   Varga, Rita E ^f   Gülpnar, Ömer ^b   Süer, Evren ^b   Soygür, Tarkan ^b   Özçakar, Zeynep B ^b   Yalçnkaya, Fatoş ^b   Kavaz, Asl ^b   Bulum, Burcu ^b   Gücük, Adnan ^g   Yue, Wyatt W ^h   Erdogan, Firat ⁱ   Berry, Andrew ^a   Hanley, Neil A ^a   McKenzie, Edward A ^a   Hilton, Emma N ^a   Woolf, Adrian S ^a   Newman, William G ^a   more..

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b ANKARA UNIVERSITY   (Turkey)

^c BEZMIALEM VAKIF UNIVERSITY   (Turkey)

^d HOSPITAL TXAGORRITXU   (Spain)

^e HOSPITAL DE CRUCES   (Spain)

^f JENA UNIVERSITY HOSPITAL   (Germany)

^g ABANT IZZET BAYSAL UNIVERSITY   (Turkey)

^h UNIVERSITY OF OXFORD   (United Kingdom)

ⁱ ISTANBUL MEDIPOL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSKELETON PROTEIN; HEPARANASE; LEUCINE RICH REPEAT AND IMMUNOGLOBULIN LIKE DOMAIN 2; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; BLADDER DYSFUNCTION; CASE REPORT; CHILD; CRYSTAL STRUCTURE; CYTOSKELETON; ENURESIS; EXOME; EXON SKIPPING; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENETIC VARIABILITY; HUMAN; INTERMITTENT CATHETERIZATION; LOSS OF FUNCTION MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OVERACTIVE BLADDER; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; URETHRA; UROFACIAL SYNDROME; UROSEPSIS;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FACIES; FAMILY; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; URINARY BLADDER; URINARY BLADDER, NEUROGENIC; UROLOGIC DISEASES;

EID: 84873735633     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.12.002     Document Type: Article

References (30)

1. L. Kerecuk, M.F. Schreuder, and A.S. Woolf Renal tract malformations: Perspectives for nephrologists Nat. Clin. Pract. Nephrol. 4 2008 312 325
2. S. Adalat, D. Bockenhauer, S.E. Ledermann, R.C. Hennekam, and A.S. Woolf Renal malformations associated with mutations of developmental genes: Messages from the clinic Pediatr. Nephrol. 25 2010 2247 2255
3. H.J. Lambert, A. Stewart, A.M. Gullett, H.J. Cordell, S. Malcolm, S.A. Feather, J.A. Goodship, T.H. Goodship, A.S. Woolf UK VUR Study Group Primary, nonsyndromic vesicoureteric reflux and nephropathy in sibling pairs: A United Kingdom cohort for a DNA bank Clin. J. Am. Soc. Nephrol. 6 2011 760 766
4. E.E. Benarroch Neural control of the bladder: Recent advances and neurologic implications Neurology 75 2010 1839 1846
5. S. Weber, H. Thiele, S. Mir, M.R. Toliat, B. Sozeri, H. Reutter, M. Draaken, M. Ludwig, J. Altmüller, and P. Frommolt Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome Am. J. Hum. Genet. 89 2011 668 674
6. B. Ochoa Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated Pediatr. Nephrol. 19 2004 6 12
7. B. Ochoa, and R.J. Gorlin Urofacial (ochoa) syndrome Am. J. Med. Genet. 27 1987 661 667
8. S.B. Daly, J.E. Urquhart, E. Hilton, E.A. McKenzie, R.A. Kammerer, M. Lewis, B. Kerr, H. Stuart, D. Donnai, and D.A. Long Mutations in HPSE2 cause urofacial syndrome Am. J. Hum. Genet. 86 2010 963 969
9. J. Pang, S. Zhang, P. Yang, B. Hawkins-Lee, J. Zhong, Y. Zhang, B. Ochoa, J.A. Agundez, M.A. Voelckel, and R.B. Fisher Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome Am. J. Hum. Genet. 86 2010 957 962
10. F. Levy-Adam, S. Feld, V. Cohen-Kaplan, A. Shteingauz, M. Gross, G. Arvatz, I. Naroditsky, N. Ilan, I. Doweck, and I. Vlodavsky Heparanase 2 interacts with heparan sulfate with high affinity and inhibits heparanase activity J. Biol. Chem. 285 2010 28010 28019
11. I.M. Carr, K.J. Flintoff, G.R. Taylor, A.F. Markham, and D.T. Bonthron Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families Hum. Mutat. 27 2006 1041 1046
12. O. Aydogdu, B. Burgu, F. Demirel, T. Soygur, Z.B. Ozcakar, F. Yalcinkaya, and S. Tekgul Ochoa syndrome: A spectrum of urofacial syndrome Eur. J. Pediatr. 169 2010 431 435
13. S. Emir, R. Kan, H.A. Demir, N. Cakar, and M. Güler Occurrence of Wilms tumor in a child with urofacial (OCHOA) syndrome Pediatr. Hematol. Oncol. 28 2011 616 618
14. R. Natrajan, R.D. Williams, A. Grigoriadis, A. Mackay, K. Fenwick, A. Ashworth, J.S. Dome, P.E. Grundy, K. Pritchard-Jones, and C. Jones Delineation of a 1Mb breakpoint region at 1p13 in Wilms tumors by fine-tiling oligonucleotide array CGH Genes Chromosomes Cancer 46 2007 607 615
15. F. Claverie-Martín, C. Flores, M. Antón-Gamero, H. González-Acosta, and V. García-Nieto The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping J. Hum. Genet. 50 2005 370 374
16. S. Homma, T. Shimada, T. Hikake, and H. Yaginuma Expression pattern of LRR and Ig domain-containing protein (LRRIG protein) in the early mouse embryo Gene Expr. Patterns 9 2009 1 26
17. I. Vidal, Y. Héloury, P. Ravasse, L. Lenormand, and M.D. Leclair Severe bladder dysfunction revealed prenatally or during infancy J. Pediatr. Urol. 5 2009 3 7
18. M.D. Leclair, and Y. Héloury Non-neurogenic elimination disorders in children J. Pediatr. Urol. 6 2010 338 345
19. M.S. Silay, O. Tanriverdi, T. Karatag, G. Ozcelik, K. Horasanli, and C. Miroglu Twelve-year experience with Hinman-Allen syndrome at a single center Urology 78 2011 1397 1401
20. D. Guo, C. Holmlund, R. Henriksson, and H. Hedman The LRIG gene family has three vertebrate paralogs widely expressed in human and mouse tissues and a homolog in Ascidiacea Genomics 84 2004 157 165
21. B. Wang, L. Han, R. Chen, M. Cai, F. Han, T. Lei, and D. Guo Downregulation of LRIG2 expression by RNA interference inhibits glioblastoma cell (GL15) growth, causes cell cycle redistribution, increases cell apoptosis and enhances cell adhesion and invasion in vitro Cancer Biol. Ther. 8 2009 1018 1023
22. H. Hedman, and R. Henriksson LRIG inhibitors of growth factor signalling - Double-edged swords in human cancer? Eur. J. Cancer 43 2007 676 682
23. S. Ghasimi, H. Haapasalo, M. Eray, K. Korhonen, T. Brännström, H. Hedman, and U. Andersson Immunohistochemical analysis of LRIG proteins in meningiomas: Correlation between estrogen receptor status and LRIG expression J. Neurooncol. 108 2012 435 441
24. C. Holmlund, H. Haapasalo, W. Yi, O. Raheem, T. Brännström, H. Bragge, R. Henriksson, and H. Hedman Cytoplasmic LRIG2 expression is associated with poor oligodendroglioma patient survival Neuropathology 29 2009 242 247
25. D. Jenkins, P.J.D. Winyard, and A.S. Woolf Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development J. Anat. 211 2007 620 629
26. S.A. Gilpin, and J.A. Gosling Smooth muscle in the wall of the developing human urinary bladder and urethra J. Anat. 137 1983 503 512
27. E. McKenzie, K. Tyson, A. Stamps, P. Smith, P. Turner, R. Barry, M. Hircock, S. Patel, E. Barry, and C. Stubberfield Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member Biochem. Biophys. Res. Commun. 276 2000 1170 1177
28. H. Cui, C. Shao, Q. Liu, W. Yu, J. Fang, W. Yu, A. Ali, and K. Ding Heparanase enhances nerve-growth-factor-induced PC12 cell neuritogenesis via the p38 MAPK pathway Biochem. J. 440 2011 273 282
29. F.P. Navarro, R.P. Fares, P.E. Sanchez, J. Nadam, B. Georges, C. Moulin, A. Morales, J.M. Pequignot, and L. Bezin Brain heparanase expression is up-regulated during postnatal development and hypoxia-induced neovascularization in adult rats J. Neurochem. 105 2008 34 45
30. Y. Zhang, M.N. Yeung, J. Liu, C.H. Chau, Y.S. Chan, and D.K. Shum Mapping heparanase expression in the spinal cord of adult rats J. Comp. Neurol. 494 2006 345 357