A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly

European Journal of Human Genetics

Volumn 12, Issue 5, 2004, Pages 419-421

  Pichon, Bruno ^a,b   Vankerckhove, Sophie ^b   Bourrouillou, Georges ^c   Duprez, Laurence ^a,b   Abramowicz, Marc J ^a,b  

^a ERASME HOSPITAL   (Belgium)

^b UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^c CHU PURPAN   (France)

Author keywords

Brain development; MCPH5; Mendelian cytogenetics

Indexed keywords

CHROMOSOME PROTEIN; PROTEIN ASPM; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 1Q; CHROMOSOME TRANSLOCATION; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE INSERTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC TRANSCRIPTION; HUMAN; INTRON; MALE; MICROCEPHALY; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; RELATIVE; SAMPLING;

CHROMOSOME BANDING; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 4; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MICROCEPHALY; MUTATION; NERVE TISSUE PROTEINS; TRANSLOCATION, GENETIC;

EID: 2442686701     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201169     Document Type: Article

References (11)

1. Mochida GH, Walsh CA: Molecular genetics of human microcephaly. Curr Opin Neurol 2001; 14: 151-156.
2. Roberts E, Hampshire DJ, Pattison L et al: Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J Med Genet 2002; 39: 718-721.
3. Leal G, Roberts E, O Silva EO, Costa SMR, Hampshire DJ, Woods CG: A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. J Med Genet 2003; 40: 540-542.
4. Jamieson CR, Fryns JP, Jacobs J, Matthijs G, Abramowicz MJ: Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet 2000; 67: 1575-1577.
5. Pattison L, Crow YJ, Deeble VJ et al: A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet 2000; 67: 1578-1580.
6. Bond J, Roberts E, Mochida GH et al: ASPM is a major determinant of cerebral cortical size. Nat Genet 2002; 32: 316-320.
7. Jacobs PA: Structural rearrangements of the chromosomes in man. in Hook EB, Porter IH (eds) Population Cytogenetics. New York: Academic press; 1977, pp 81-87.
8. Bugge M, Bruun-Petersen G, Brondum-Nielsen K et al: Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man. J Med Genet 2000; 37: 858-865.
9. Hearn T, Renforth GL, Spalluto C et al: Mutation of ALMS1 a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet 2002; 31: 79-83.
10. Perez-Castillo A, Martin-Lucas MA, Abrisqueta JA: Is a gene for microcephaly located on chromosome 1? Hum Genet 1984; 67: 230-232.
11. Bond J, Scott S, Hampshire DJ et al: Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet 2003; 73: 1170-1177.