An 8.9 year old girl with autism and Gorlin syndrome

European Journal of Paediatric Neurology

Volumn 15, Issue 3, 2011, Pages 268-270

  Delbroek, Hanne ^a   Steyaert, Jean ^a,b   Legius, Eric ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

Autism; Gorlin syndrome; Nevoid basal cell carcinoma syndrome; PTCH1 gene

Indexed keywords

SMOOTHENED PROTEIN; TRANSCRIPTION FACTOR GLI1; TRANSCRIPTION FACTOR GLI2;

ANAMNESIS; ARTICLE; AUTISM; BASAL CELL NEVUS SYNDROME; CARCINOGENESIS; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE ASSOCIATION; EMBRYO DEVELOPMENT; FEMALE; GENE; GENE DELETION; GENE REPRESSION; HUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; PTCH1 GENE; SCHOOL CHILD;

AUTISTIC DISORDER; BASAL CELL NEVUS SYNDROME; CHILD; CODON, NONSENSE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; RECEPTORS, CELL SURFACE;

EID: 79955462903     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2010.12.001     Document Type: Article

References (29)

1. L. Lo Muzio Nevoid basal cell carcinoma syndrome (Gorlin syndrome) Orphanet J Rare Dis 3 2008 32
2. P.A. Farndon, R.G. Del Mastro, D.G. Evans, and M.W. Kilpatrick Location of gene for Gorlin syndrome Lancet 339 1992 581 582
3. D.G. Evans, E. Howard, and C. Giblin Birth Incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service Am J Med Genet A 152A 2010 327 332
4. Alec High, and Walid Zedan Basal cell nevus syndrome Curr Opin Oncol 17 2005 160 166 (Pubitemid 40516285)
5. W. Jarish Zur lehre von den augeschwulsten Archiv juf dermatologic syphilogic 28 1894 163 222
6. J.M. Díaz-Fernández, P. Infante-Cossío, and R. Belmonte-Caro Basal cell nevus syndrome. Presentation of six cases and literature review Med Oral Patol Oral Cir Bucal 10 2005 57 66
7. ®)
8. E. Fombonne Epidemiology of pervasive developmental disorders Pediatr Res 65 2009 591 598
9. W. Kort, M. Schittekatte, and P.H. Dekker WISC-IIINL Wechsler Intelligence scale for children David Wechsler Handleiding en Verantwoording Derde Editie NL 2005 Harcourt Test Publishers Amsterdam Amsterdam: NIP Dienstencentrum
10. B.C.M. Smits-Engelmans Movement ABC: Nederlandse handleiding 1998 Swets en Zeitlinger Lisse
11. M. Murone, A. Rosenthal, and F.J. De-Sauvage Hedgehog signal transduction from flies to vertebrates Exp Cell Res 253 1999 25 33
12. H. Hahn, L. Wojnowki, and G. Miller The patched signaling pathway in tumorigenesis and development: lessons from animal models J Mol Med 77 1999 459 468 (Pubitemid 29372578)
13. O. Lupi Correlations between the Sonic Hedgehog pathway and basal cell carcinoma Int J Dermatol 46 2007 1113 1117 (Pubitemid 350055879)
14. M.S. Ikram, G.W. Neill, and G. Regl GLI2 is expressed in normal human epidermis and BCC and induces GLI1 expression by binding to its promoter J Invest Dermatol 122 2004 1503 1509 (Pubitemid 38757234)
15. C. Schmitz, and P. Rezaie The neuropathology of autism: where do we stand? Neuropathol Appl Neurobiol 34 2008 4 11
16. C.A. Pardo, and C.G. Eberhart The neurobiology of autism Brain Pathol 17 2007 434 447 (Pubitemid 47537607)
17. T. Bourgeron A synaptic trek to autism Curr Opin Neurobiol 19 2009 231 234
18. D.G. Amaral, C.M. Schumann, and C.W. Nordahl Neuroanatomy of autism Trends Neurosci 31 2008 137 145
19. P.W. Ingham, and M. Placzek Orchestrating ontogenesis: variations on a theme by sonic hedgehog Nat Rev Genet 7 2006 841 850 (Pubitemid 44607100)
20. J. Briscoe, and J. Ericson The specification of neuronal identity by graded sonic hedgehog signalling Semin Cell Dev Biol 10 1999 353 362 (Pubitemid 129502430)
21. N. Dahmane, P. Sánchez, and Y. Gitton The sonic hedgehog-Gli pathway regulates dorsal brain growth and tumorgenesis Development 128 2001 5201 5212 (Pubitemid 34083045)
22. K. Lai, B.K. Kaspar, F.H. Gage, and D.V. Schaffer Sonic hedgehog regulates adult neural progenitor proliferation in vitro and in vivo Nat Neurosci 6 2003 21 27 (Pubitemid 36026328)
23. D.H. Rowitch, B. St.-Jacques, and S.M.K. Lee Sonic hedgehog regulates proliferation and inhibits differentiation of CNS precursor cells J Neurosci 19 1999 8954 8965 (Pubitemid 30226716)
24. J. Jeong, and A.P. McMahon Growth and pattern of the mammalian neural tube are governed by partially overlapping feedback activities of the hedgehog antagonists patched 1 and Hhip1 Development 132 2005 143 154 (Pubitemid 40207974)
25. C.A. Williams, A. Dagli, and A. Battaglia Genetic disorders associated with macrocephaly Am J Med Genet A 146A 2008 2023 2037
26. P. Curatolo, M.C. Porfirio, B. Manzi, and S. Seri Autism in tuberous sclerosis Eur J Paediatr Neurol 8 2004 327 332 (Pubitemid 39497260)
27. V.E. Kimonis, A.M. Goldstein, and B. Pastakia Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome Am J Med Genet 69 1997 299 308 (Pubitemid 27154674)
28. J.H. Miles, L.L. Hadden, T.N. Takahashi, and R.E. Hillman Head circumference is an independent clinical finding associated with autism Am J Med Genet 95 2000 339 350
29. R. Sacco, R. Militerni, and A. Frolli Clinical, morphological, and biochemical correlates of head circumference in autism Biol Psychiatry 62 2007 1038 1047 (Pubitemid 47562373)