Psychiatric disorder and cognitive function in a family with an inherited novel mutation of the developmental control gene PAX6

Psychiatric Genetics

Volumn 9, Issue 2, 1999, Pages 85-90

  Heyman, I ^a   Frampton, I ^a   Van Heyningen, V ^b   Hanson, I ^b   Taylor, A ^a   Simonoff, E ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

Development; Forebrain; Genetics; PAX6; Psychiatry; Psychology

Indexed keywords

ADOLESCENT; ADULT; ANIRIDIA; ARTICLE; BRAIN FUNCTION; CLINICAL ARTICLE; COGNITION; CONTROLLED STUDY; EYE DEVELOPMENT; EYE MALFORMATION; FAMILY STUDY; FOREBRAIN; FRONTAL LOBE; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HETEROZYGOSITY; HUMAN; MENTAL DISEASE; NEUROANATOMY; NEUROPSYCHOLOGICAL TEST; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0032698040     PISSN: 09558829     EISSN: None     Source Type: Journal    
DOI: 10.1097/00041444-199906000-00006     Document Type: Article

References (33)

1. Axton R, Hanson IM (1998). Conformation-based mutation detection. Technical tips online (http://www.elsevier.com/ locate/tto) P01390.
2. Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E et al. (1995). Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25:63-77.
3. Barbeau D, Liang JJ, Robitalille Y, Quirion R, Srivastava LK (1995). Decreased expression of the embryonic form of the neural cell adhesion molecule in schizophrenic brains. Proc Natl Acad Sci USA 92:2785-2789.
4. Benton AL, Hamsher K (1976). Multilingual aphasia examination. Iowa City: University of Iowa.
5. Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A et al. (1996). Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 12:94-96.
6. Burgess PW, Shallice T (1997). The Hayling and Brixton test manual. Bury St Edmunds: Thames Valley Test Co.
7. Frangiskakis JM, Ewart AK, Morris CA, Mervis CB, Bertrand J, Robinson BF et al. (1996). LIM-kinasel hemizygosity implicated in imparied visuospatial constructive cognition. Cell 86:59-69.
8. Gerard M, Abitbol M, Delezoide AL, Dufier JL, Mallet J, Vekemans M (1995). PAX-genes expression during human embryonic development: a preliminary report. C R Acad Sci III 318:57-66.
9. Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL (1994). PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet 7:463-471.
10. Hanson I, van Heyningen V (1995). PAX6: more than meets the eye. Trends Genet 11:268-272.
11. Harris ME (1990). Wisconsin Card Sorting Test: computer version, research edition. Odessa, FL: Psychological Assessment Resources.
12. Lea M (1986). A British supplement to the manual of the Wechsler Adult Intelligence Scale - revised. London: The Psychological Corporation.
13. Lishman WA (1998). Symptoms and syndromes with regional affiliations: frontal lobe syndrome. In: Organic psychiatry. The psychological consequences of cerebral disorder. Oxford: Blackwell Scientific, pp. 76-80.
14. Lumsden A, Krumlauf R (1996). Patterning the vertebrate neuraxis. Science 274:1109-1115.
15. Mastick GS, Davis NM, Andrew GL, Easter S Jr (1997). PAX-6 functions in boundary formation and axon guidance in the embryonic mouse forebrain. Development 124:1985-1997.
16. Muragaki Y, Mundlos S, Upton J, Olsen BR (1996). Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272:548-551.
17. Nathaniel James DA, Fletcher P, Frith CD (1997). The functional anatomy of verbal initiation and suppression using the Hayling test, Neuropsychologia 35:559-566.
18. Ott J (1991), Analysis of human genetic linkage, Baltimore, MD: Johns Hopkins University Press.
19. Pennington BF, Ozonoff S (1996), Executive functions and developmental psychopathology, J Child Psychol Psychiatry 37:51-87.
20. Petit E, Herault J, Martineau J, Perrot A, Barthelemy C, Hameury L et al. (1995), Association study with two markers of a human homeogene in infantile autism. J Med Genet 32:269-274.
21. Presser J, van Heyningen V (1998). PAX6 mutations reviewed. Hum Mutat 11:93-108.
22. Romans SM, Roeltgen DP, Kushner H, Ross JL (1997). Executive function in girls with Turner's syndrome. Dev Neuropsychol 13:23-40.
23. Schedl A, Ross A, Lee M, Engelkamp D, Rashbass P, van-Heyningen V et al. (1996). Influence of PAX6 gene dosage on development: over expression causes severe eye abnormalities. Cell 86:71-82.
24. Schmahl W, Knoedlseder M, Favor J, Davidson D (1993). Defects of neuronal migration and the pathogenesis of cortical malformations are associated with Small eye (Sey) in the mouse, a point mutation at the Pax-6 locus. Ada Neuropathol Berl 86:126-35.
25. Shallice T (1982). Specific impairments of planning. Phil Trans Roy Soc Lon, Series B 298:199-209.
26. Skuse DH, James RS, Bishop DV, Coppin B, Dalton P, Aamodt Leeper G et al. (1997). Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature 387:705-708.
27. Stoykova A, Gruss P (1994). Roles of Pax-genes in developing and adult brain as suggested by expression patterns, J Neurosci 14:1395-1412.
28. Stoykova A, Fritsch R, Walther C, Gruss P (1996). Forebrain patterning defects in Small eye mutant mice. Development 122:3453-3465.
29. Stoykova A, Gotz M, Gruss P, Price J (1997). PAX 6-dependent regulation of adhesive patterning, R-cadherin expression and boundary formation in developing forebrain. Development 124:3765-3777.
30. Warren N, Price DJ (1997). Roles of PAX-6 in murine diencephalic development. Development 124:1573-1582.
31. Wechsler D (1992). Wechsler Intelligence Scale for Children, 3rd ed. London: The Psychological Corporation.
32. Welsh MC, Pennington BF, Groisser DB (1991). A normative-developmental study of executive function: a window on prefrontal function in children. Dev Neuropsychol 7:131-149.
33. World Health Organization (1992). The ICD-IO classification of mental and behavioural disorders. Clinical descriptions and diagnostic guidelines. Geneva: World Health Organization.