Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype

American Journal of Medical Genetics, Part A

Volumn 140, Issue 19, 2006, Pages 2085-2090

  Santiago, Giselda ^a   Abramides, Dagma Venturini Marques ^a   De Vitto, Luciana Paula Maximino ^a   Ribeiro, Lucilene Arilho ^a   Meira Jr , Silvio Garcia ^a   Richieri Costa, Antonio ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Cognition; Language; Minor facial manifestations; MRI

Indexed keywords

ADOLESCENT; ADULT; ANTERIOR COMMISSURE; ARTICLE; BRAIN CYST; CASE REPORT; COGNITION; FEMALE; GENE; GENE MUTATION; HOLOPROSENCEPHALY; HUMAN; LANGUAGE DISABILITY; LINGUISTICS; MALE; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHH GENE; SKILL; TASK PERFORMANCE;

ADOLESCENT; ADULT; BRAZIL; CHILD; CHILD, PRESCHOOL; COGNITION; FEMALE; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; INTELLIGENCE; LANGUAGE DEVELOPMENT DISORDERS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE;

EID: 33749488418     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31311     Document Type: Article

References (39)

1. Bamiou DE, Musiek FE, Sisodiya SM, Free SL, Davies RA, Moore A, van Heyningen V, Luxon LM. 2004. Deficient auditory interhemispheric transfer in patients with PAX6 mutations. Ann Neurol 56:503-509.
2. Bogossian MADS, Santos MJ. 1977. Adaptação brasileira-teste Illinois de habilidades psicolingüísticas. Florianópolis: Tamasa.
3. Carroll JB. 1972. Review of the Illinois Test of Psycholinguistic Abilities, Revised edition. In: Buros OK, editor. The seventh mental measurement yearbook. Highland Park, NJ: Gryphon Press. pp 819-823.
4. Charytoniuk D, Porcel B, Rodriguez Gomez J, Faure H, Ruat M, Traiffort E. 2002. Sonic Hedgehog signaling in the developing and adult brain. J Physiol Paris 96:9-16.
5. Cohen MM Jr. 2001. Problems in the definition of holoprosencephaly. Am J Med Genet 103:183-187.
6. Cohen MM Jr. 2003. The hedgehog signaling network. Am J Med Genet Part A 123A:5-28.
7. Cordero D, Marcucio R, Hu D, Gaffield W, Tapadia M, Helms JA. 2004. Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes. J Clin Invest 114:485-494.
8. Corrales JD, Rocco GL, Blaess S, Guo Q, Joyner AL. 2004. Spatial pattern of sonic hedgehog signaling through Gli genes during cerebellum development. Development 131:5581-5590.
9. Dahmane N, Ruiz-i-Altaba A. 1999. Sonic hedgehog regulates the growth and patterning of the cerebellum. Development 126:3089-3100.
10. DeRenzi E, Vignolo LA. 1962. The Token Test: A sensitive test to detect receptive disturbances in aphasics. Brain 85:665-678.
11. Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V. 2004. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. Hum Mutat 24:43-51.
12. Ellison-Wright Z, Heyman I, Frampton I, Rubia K, Chitnis X, Ellison-Wright I, Williams SC, Suckling J, Simmons A, Bullmore E. 2004. Heterozygous PAX6 mutation, adult brain structure and fronto-striato-thalamic function in a human family. Eur J Neurosci 19:1505-1512.
13. Etchepareborda MC, Lopez-Lazaro MJ. 2005. Cytoarchitectural structure of the areas of language. Rev Neurol 40:S103-S106.
14. Granata A, Savery D, Hazan J, Cheung BM, Lumsden A, Quaderi NA. 2005. Evidence of functional redundancy between MID proteins: Implications for the presentation of Opitz syndrome. Rev Biol 277:417-424.
15. Hashimoto R, Sakai KL. 2002. Specialization in the left prefrontal cortex for sentence comprehension. Neuron 35:589-597.
16. Hashimoto-Torii K, Motoyama J, Hui CC, Kuroiwa A, Nakafuku M, Shimamura K. 2003. Differential activities of Sonic hedgehog mediated by Gli transcription factors define distinct neuronal subtypes in the dorsal thalamus. Mech Dev 120:1097-1111.
17. Heussler HS, Suri M, Young ID. Muenke M. 2002. Extreme variability of expression of a Sonic Hedgehog mutation: Attention difficulties and holoprosencephaly. Arch Dis Child 86:293-296.
18. Juch H, Zimine I, Seghier ML, Lazeyras F, Fasel JH. 2005. Anatomical variability of the lateral frontal lobe surface: Implication for intersubject variability in language neuroimaging. Neuroimage 24:504-514.
19. Kirk SA, Kirk WD. 1978. Uses and abuses of the ITPA. J Speech Hear Disord 43:58-75.
20. Kirk SA, McCarthy JD, Kirk WS. 1908. Illinois Test of Psycholinguistic Abilities (ITPA). Urbana, IL: University of Illinois Press. [Norwegian standardization by H.-J. Gjessing & H. D. Nygaard, 1975. Håndbok. Oslo: Universitetsforlaget].
21. Lacbawan FL, Muenke M. 2002. Central nervous system embryogenesis and its failures. Pediatr Dev Pathol 5:425-447.
22. Lazaro L, Dubourg C, Pasquier L, Le Duff F, Blayau M, Durou MR, de la Pintiere AT, Aguilella C, David V, Odent S. 2004. Phenotypic and molecular variability of the holoprosencephalic spectrum. Am J Med Genet Part A 129A:21-24.
23. Li X, Rosenfeld MG. 2004. Transcription: Origins of licensing control. Nature 19:687-688.
24. LoCasto PC, Krebs-Noble D, Gullapalli RP, Burton MW. 2004. An fMRI investigation of speech and tone segmentation. J Cogn Neurosci 10:1012-1024.
25. Marti E, Bovolenta P. 2002. Sonic hedgehog in CNS development: One signal, multiple outputs. Trends Neurosci 25:89-96.
26. Palma V, Lim DA, Dahmane N, Sanchez P, Brionne TC, Herzberg CD, Gitton Y, Carleton A, Alvarez-Buylla A, Ruiz i Altaba A. 2005. Sonic hedgehog controls stem cell behavior in the postnatal and adult brain. Development 132:335-344.
27. Poeppel D, Hickok G. 2004. Towards a new functional anatomy of language. Cognition 92:1-12.
28. Ribeiro L, El-Jaick K, Muenke M, Richieri-Costa A. 2004. SIX3 and TGIF in holoprosencephaly-mutations, phenotypes, and imaging. How different are they? 54th Annual Meeting of the American Society of Human Genetics, Abstract #400.
29. Richieri-Costa A, Ribeiro LA. 2006. Holoprosencephaly-like phenotype: Clinical and genetic perspectives. Am J Med Genet Part A (in press).
30. Roessler E, Du Y-Z, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Altaba AR, Muenke M. 2003. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci USA 100:1324-1329.
31. Sakai KL, Homae F, Hashimoto R. 2003. Sentence processing is uniquely human. Neurosci Res 46:273-279.
32. Sotelo C. 2004. Cellular and genetic regulation of the development of the cerebellar system. Prog Neurobiol 72:295-339.
33. Thompson PJ, Mitchell TN, Free SL, Williamson KA, Hanson IM, van Heyningen V, Moore AT, Sisodiya SM. 2004. Cognitive functioning in humans with mutations of the PAX6 gene. Neurology 62:1216-1218.
34. Wechsler D. 1907. WPPSI. Wechsler Preschool and Primary Scale of Intelligence, manual. New York: Psychological Corporation.
35. Wechsler D. 1981. WAIS: Wechsler Adult Intelligence Scale, manual. New York: Psychological Corporation.
36. Wechsler D. 1991. Escala de Inteligência Wechsler para crianças: manual/David Wechsler. 3a edição; Adaptação e Padronização j.h.merksBrasileira, 1a edition. Vera Lúcia Marques de Figueiredo-São Paulo: Casa do Psicólogo, 2002.
37. Wilkie AOM, Morriss-Kay G. 2001. Genetics of craniofacial development malformation. Nat Rev 2:458-468.
38. Winterer G, Goldman D. 2003. Genetics of human prefrontal function. Brain Res Rev 43:134-163.
39. World Health Organization the ICD-10. 1992. Classifications of mental and behavioral disorders: Clinical descriptor and diagnostic guide lines. Geneva: WHO.