Title: Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype
Authors: VALLI ROBERTOMINELLI ANTONELLAABDUL WAHEED KHANFRATTINI ANNALISAMONTALBANO GIUSEPPEBOGNI ALESSIAFABBRI MARCOPORTA GIOVANNIACQUATI FRANCESCOPINTO RITA MARIABERGAMI ELENAMURA ROSSELLAPEGORARO ANNACESARO SIMONECIPOLLI MARCOZECCA MARCODANESINO CESARELOCATELLI FRANCOMASERATI EMANUELAPASQUALI FRANCESCO
Citation: MOLECULAR CYTOGENETICS vol. 13 no. 1 p. 1-9
Publisher: BMC
Publication Year: 2020
JRC N°: JRC116396
ISSN: 1755-8166 (online)
URI: https://publications.jrc.ec.europa.eu/repository/handle/JRC116396
DOI: 10.1186/s13039-019-0466-9
Type: Articles in periodicals and books
Abstract: We report the expression analysis of bone marrow (BM) cells of patients with Shwachman-Diamond syndrome (SDS), in relation to the presence of clonal chromosome anomalies: interstitial deletion of the long arm of chromosome 20 (five cases), isochromosome of the long arm of chromosome 7 (one case), other anomalies (two cases). The study was performed by microarray technique considering the whole transcriptome (WT), and three gene subsets, selected as relevant in BM functions. The results were compared with those of nine patients with SDS without clonal anomalies, and of nine healthy subjects. There is a significant difference between gene expression in BM of SDS patients and healthy subjects, both at level of WT and of the gene sets selected. The deletion del(20)(q), with the EIF6 gene consistently lost, even in patients with the smallest losses of material, changes the transcription pattern: a low proportion of abnormal cells lead to a pattern similar to SDS patients without acquired anomalies, whereas a high proportion yields to a pattern similar to healthy subjects. Hence, the benign prognostic value of the del(20)(q). The case of i(7)(q10) showed a transcription pattern similar to healthy subjects, paralleling the positive prognostic role of this anomaly as well.
JRC Directorate:Health, Consumers and Reference Materials

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