The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene

Journal of Human Genetics

Volumn 49, Issue 6, 2004, Pages 308-311

  Bhalla, Kavita ^a   Phillips, Hilary A ^a   Crawford, Joanna ^a   McKenzie, Olivia L D ^a   Mulley, John C ^a   Eyre, Helen ^a   Gardner, Alison E ^a   Kremmidiotis, Gabriel ^a   Callen, David F ^b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

A2BP1; Chromosome 16; De novo translocation; Spinocerebellar ataxia binding protein

Indexed keywords

4',6 DIAMIDINO 2 PHENYLINDOLE; ATAXIN 2 BINDING PROTEIN 1; BINDING PROTEIN; DISTAMYCIN A; PROTEIN A2BP1; PROTEIN SCA2; UNCLASSIFIED DRUG; A2BP1 PROTEIN, HUMAN; NERVE PROTEIN; PROTEIN; RNA BINDING PROTEIN; SCA2 PROTEIN;

A2BP1 GENE; ARTICLE; CHROMOSOME 16; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; EPILEPSY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; HETEROCHROMATIN; HUMAN; MENTAL DEFICIENCY; METAPHASE CHROMOSOME; PHENOTYPE; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINOCEREBELLAR DEGENERATION; ADOLESCENT; BIOLOGICAL MODEL; CASE REPORT; EXON; FEMALE; GENE TRANSLOCATION; GENETICS; INTRON; MALE; MUTATION; PRESCHOOL CHILD;

ATAXIA;

ADOLESCENT; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; EPILEPSY; EXONS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTRONS; MALE; MENTAL RETARDATION; MODELS, GENETIC; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; PHYSICAL CHROMOSOME MAPPING; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; RNA-BINDING PROTEINS; TRANSLOCATION, GENETIC;

EID: 3042762344     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-004-0145-4     Document Type: Article

References (6)

1. Callen DF, Baker E, Eyre HJ, Chernos JE, Bell JA, Sutherland GR (1990) Reassessment of two apparent deletions of chromosome 16p to an ins(11;16) and a t(1;16) by chromosome painting. Ann Genet 33:219-221
2. Callen DF, Lane SA, Kozman H, Kremmidiotis G, Whitmore SA, Lowenstein M, Doggett NA, Kenmochi N, Page DC, Maglott DR et al (1995) Integration of transcript and genetic maps of chromosome 16 at near-1-Mb resolution: demonstration of a "hot spot" for recombination at 16p12. Genomics 29:503-511
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5. Shibata H, Huynh DP, Pulst SM (2000) A novel protein with RNA-binding motifs interacts with ataxin-2. Hum Mol Genet 9:1303-1313
6. Warburton D (1991) De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49:995-1013