SBDS
Ribosome maturation protein SBDS (Shwachman-Bodian-Diamond syndrome protein) [CGI-97]
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An investigation of 22 new patients with Shwachman-Diamond syndrome (SDS) and the follow-up of 14 previously reported cases showed that (i) clonal chromosome changes of chromosomes 7 and 20 were present in the bone marrow (BM) of 16 out of 36 cases, but if non-clonal changes were taken into account, the frequency of anomalies affecting these chromosomes was 20/36: a specific SDS karyotype instability was thus confirmed; (ii) the recurrent isochromosome i(7)(q10) did not include short arm material, whereas it retained two arrays of D7Z1 alphoid sequences; (iii) the deletion del(20)(q11) involved the minimal region of deletion typical of myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML); (iv) only one patient developed MDS, during the rapid expansion of a BM clone with a chromosome 7 carrying additional material on the short arms; (v) the acquisition of BM clonal chromosome anomalies was age-related. We conclude that karyotype instability is part of the natural history of SDS through a specific mutator effect, linked to lacking SBDS protein, with consequent clonal anomalies of chromosomes 7 and 20 in BM, which may eventually promote MDS/AML with the patients' ageing.
MeSH Terms
- Adolescent
- Adult
- Aging
- Bone Marrow Cells
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Breakage
- Chromosomes, Human, Pair 20
- Chromosomes, Human, Pair 7
- DNA Mutational Analysis
- Disease Progression
- Female
- Follow-Up Studies
- Humans
- In Situ Hybridization, Fluorescence
- Isochromosomes
- Karyotyping
- Leukemia, Myeloid, Acute
- Male
- Myelodysplastic Syndromes
- Proteins
- Young Adult