Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation

Aboura, A.

doi:10.1136/jmg.40.1.e6

Cited by 6 publications

(3 citation statements)

References 27 publications

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“…ABL1 is a protooncogene that encodes for a tyrosine kinase known best for its fusion product of the t(9;22) translocation (Philadelphia chromosome) involved in chronic myelogenous leukemia (CML). Deletions of ABL1 were detected by FISH analysis in two patients with chromosome rearrangements: In a patient with cardiac defect and a paracentric inversion inv(9)(q31q34.1) [Kleyman et al, 1997] and in a patient with a maternally inherited translocation t(3;22;9)(q22;q12;q34.1) [Aboura et al, 2003]. The sizes of these deletions were not determined, and those patients bore no clinical resemblance to the patient reported here.…”

Section: Discussionmentioning

confidence: 99%

Interstitial 9q34.11–q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate

Tzschach

Grasshoff

Schäferhoff

et al. 2012

American J of Med Genetics Pt A

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Interstitial deletions of chromosome bands 9q34.11-q34.13 are rare. We report on a 16-year-old female patient with severe intellectual disability, congenital hydrocephalus, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and facial dysmorphic signs. Array analysis revealed a 3.7 Mb interstitial deletion in 9q34.11-q34.13. The deletion harbors more than 60 genes, including SPTAN1, DYT1/TOR1A, ABL1, ASS1, LAMC3, POMT1, DOLK, and GLE1, mutations in which have previously been associated with monogenic disorders. This is the first patient with a deletion of this size and position in 9q34.11-q34.13. Reports of additional patients with aberrations in this region will be needed to establish karyotype-phenotype correlations and to gain information on the contribution of individual genes for the clinical manifestations.

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Section: Discussionmentioning

confidence: 99%

Interstitial 9q34.11–q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate

Tzschach

Grasshoff

Schäferhoff

et al. 2012

American J of Med Genetics Pt A

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“…The sequence analysis of this region also supports the mRNA produced by homozygous dw2/dw2 plants. Chromosomal rearrangements could generate deletion and/or duplication of chromosomal segments located on or in the vicinity of breakpoints (Aboura et al 2003;Kumar et al 1998). We suppose that the chromosomal rearrangement in dw2 also caused the 403-bp deletion in the HaKAO1 gene.…”

Section: Discussionmentioning

confidence: 98%

The extreme dwarf phenotype of the GA-sensitive mutant of sunflower, dwarf2, is generated by a deletion in the ent-kaurenoic acid oxidase1 (HaKAO1) gene sequence

et al. 2011

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A dwarf mutant, dw arf 2 (dw2), was isolated from sunflower (Helianthus annuus). The most obvious alterations of dw2 plants were the lack of stem growth, reduced size of leaves, petioles and flower organs, retarded flower development. Pollen and ovules were produced but the filaments failed to extrude the anthers from the corolla. The dw2 phenotype was mainly because of reduced cell size. In dw2 leaves, the dark-green color was not so much due to higher pigment content, but was correlated with a changed leaf morphology. The mutant responded to the application of bioactive gibberellins (GAs). The levels of ent-7α-hydroxykaurenoic acid, GA(19), GA(20) and GA(1) in dw2 seedlings were severely decreased relative to those in its wild type (WT). ent-Kaurenoic acid was actively converted to ent-7α-hydroxykaurenoic acid in WT plants but quite poorly in dw2 plants. All together these data suggested that the dw2 mutation severely reduced the flux through the biosynthetic pathway leading to active GAs by hampering the conversion of ent-kaurenoic acid to GA(12). Two ent-kaurenoic acid oxidase (KAO) genes were identified. HaKAO1 was expressed everywhere in sunflower organs, while HaKAO2 was mainly expressed in roots. We demonstrated that a DNA deletion in HaKAO1 of dw2 generated aberrant mRNA-splicing, causing a premature stop codon in the amino acid sequence. In dw2 calli, Agrobacterium-mediated transfer of WT HaKAO1 cDNA restored the WT endogenous levels of GAs. In segregating BC(1) progeny, the deletion co-segregated with the dwarf phenotype. The deletion was generated near to a breakpoint of a more complex chromosome rearrangement.

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“…FISH studies using bacterial artifi cial chromosomes (BAC) specifi c for the 2q chromosomal region were performed on metaphase spreads. Dualcolour FISH experiments were performed on cell preparations as previously described [7] . The BACs were prepared from BAC clones: 384O8 located on 2q36.1, 804M4 located on 2q35, 819E9 located on 2q24.3, 801F7 located on 2q33.3.…”

Section: Fluorescence In Situ Hybridizationmentioning

confidence: 99%

Early and Rapid Prenatal Diagnosis of Monosomy 2q36.1 in Trophoblast Cells

Tachdjian¹,

Aboura²,

Brisset³

et al. 2006

Fetal Diagn Ther

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Objectives: CVS is the earliest procedure for cytogenetic analysis but the quality of metaphases obtained does not allow the characterization of subtle chromosomal anomalies. We report the application interphase fluorescence in situ hybridization for the rapid prenatal diagnosis of a subtle structural chromosome anomaly in trophoblast cells. Methods and Results: The foetus was karyotyped because of a paternal complex chromosomal anomaly 46,XY,inv(2)(q14.3q35),ins(10;2)(q25;q36.1q36.1). Fluorescence in situ hybridization analyses were performed on interphase nuclei and metaphase chromosomes from uncultured chorionic villi using bacterial artificial chromosomes specific for the 2q chromosomal region. Direct conventional cytogenetics showed an apparently normal male karyotype, whereas fluorescence in situ hybridization analysis showed a deletion of the chromosomal region 2q36.1 and a paracentric inversion of the chromosome 2q leading to a partial monosomy 2q36.1. Conclusion: This strategy allowed us to offer an early and rapid chromosomal analysis for this couple leading to a better management of the pregnancy. This report demonstrates that interphase fluorescence in situ hybridization can be used in direct CVS for a rapid and early prenatal diagnosis of complex chromosomal rearrangements.

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Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation

Cited by 6 publications

References 27 publications

Interstitial 9q34.11–q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate

Interstitial 9q34.11–q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate

The extreme dwarf phenotype of the GA-sensitive mutant of sunflower, dwarf2, is generated by a deletion in the ent-kaurenoic acid oxidase1 (HaKAO1) gene sequence

Early and Rapid Prenatal Diagnosis of Monosomy 2q36.1 in Trophoblast Cells

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