Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations

Folia Neuropathologica

Volumn 47, Issue 4, 2009, Pages 371-382

  Schmidt Sidor, Bogna ^a   Szymańska, Krystyna ^b,c   Williamson, Kathleen ^d   Van Heyningen, Veronica ^d   Roszkowski, Tomasz ^e   Wierzba Bobrowicz, Teresa ^a   Zaremba, Jacek ^a  

^a INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^b MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

^d WESTERN GENERAL HOSPITAL   (United Kingdom)

^e MEDICAL CENTER FOR POSTGRADUATE EDUCATION   (Poland)

Author keywords

Brain malformations; Cell proliferation; Fetal development; Migration; Neuropathology; PAX6 mutation (compound heterozygosity)

Indexed keywords

TRANSCRIPTION FACTOR PAX6; EYE PROTEIN; HOMEODOMAIN PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; REPRESSOR PROTEIN;

ANIRIDIA; ANOPHTHALMIA; ARTICLE; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CASE REPORT; CELL MIGRATION; CELL PROLIFERATION; CENTRAL NERVOUS SYSTEM; FAMILY HISTORY; FEMALE; FETUS ECHOGRAPHY; GENE MUTATION; GERMINATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MICROGNATHIA; PALPEBRAL FISSURE; PREGNANCY TERMINATION; BRAIN; CELL MOTION; CONGENITAL MALFORMATION; FETUS; GENE EXPRESSION REGULATION; GENETICS; HETEROZYGOTE; MORPHOGENESIS; MUTATION;

ANIRIDIA; BODY PATTERNING; BRAIN; CELL MOVEMENT; CELL PROLIFERATION; EYE PROTEINS; FETUS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; REPRESSOR PROTEINS;

EID: 84901101411     PISSN: 16414640     EISSN: 1509572X     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Chapouton P, Gärtner A, Götz M. The role of Pax6 in restricting cell migration between developing cortex and basal ganglia. Development 1999; 126: 5569-5579.
2. Engelkamp D, Rashbass P, Seawright A, van Heyningen V. Role of Pax6 in development of the cerebellar system. Development 1999; 126: 3585-3596.
3. Estivill-Torrus G, Pearson H, van Heningen V, Price DJ, Rashbass P. Pax6 required to regulate the cell cycle and the rate of progression from symmetrical to asymmetrical division in mammalian cortical progenitors. Development 2002; 129: 455-466.
4. Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Mass RL. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defect. Nat Genet 1994; 7: 463-471.
5. Jones L, Lopez-Bendito G, Gruss P, Stoykova A, Molnar Z. Pax6 is required for the normal development of the forebrain axonal connections. Development 2002; 129: 5041-5052.
6. Laure-Kamionowska M, Maslinska D. Astroglia and microglia in cerebellar neuronal migration disturbances. Folia Neuropathol 2007; 45: 205-212.
7. O'Leary DD, Nakagawa Y. Patterning center, regulatory genes and extrinsic mechanisms controlling arealization of the neocortex. Curr Opin Neurobiol 2002; 12: 14-25.
8. Pratt T, Vitalis T, Warren N, Edgar JM, Mason JO, Price DJ. A role for Pax6 in the normal development of dorsal thalamus and its cortical connections. Development 2000; 127: 5167-5178.
9. Quinn JC, Molinek M, Martynoga BS, Zaki PA, Faedeo A, Bulfone A, Hevner RF, West JD, Price DJ. Pax6 controls cerebral cortical cell number by regulating exit from the cell cycle and specifies cortical cell identity by a cell autonomous mechanism. Dev Biol 2007; 302: 50-65.
10. Sarnat HB, Menkes JH. How to construct a neural tube. J Child Neurol 2000; 15: 110-124.
11. Schmahl W, Knoedlseder M, Favor J, Davidson D. 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. Acta Neuropathol 1993; 86: 126-135.
12. Tyas DA, Pearson H, Rashbass P, Price DJ. Pax6 regulates cell adhesion during cortical development. Cereb Cortex 2003; 13: 612-619.
13. Van Heyningen V, Williamson K. Pax6 and aniridia and related phenotyps. In: Epstein CJ, Erickson RP, Wynshaw-Boris A (eds.). Inborn Errors of Development. Oxford 2008; pp. 809-817.
14. Yamasaki T, Kawaji K, Ono K, Bito H, Hirano T, Osumi N, Kengaku M. Pax6 regulates granule cell polarization during parallel fiber formation in the developing cerebellum. Development 2001; 128: 3133-3144.