Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene

Lucia Nacci, Roberto Valli, Rita Maria Pinto, Marco Zecca, Marco Cipolli, Jacopo Morini, Simone Cesaro, Emanuela Boveri, Vittorio Rosti, Paola Corti, Maura Ambroni, Francesco Pasquali, Cesare Danesino, Emanuela Maserati, Antonella Minelli

Research output: Contribution to journalArticle

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Abstract

Shwachman–Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, skeletal, and hematological abnormalities and bone marrow (BM) dysfunction. Mutations in the SBDS gene cause SDS. Clonal chromosome anomalies are often present in BM, i(7)(q10) and del(20q) being the most frequent ones. We collected 6 SDS cases with del(20q): a cluster of imprinted genes, including L3MBTL1 and SGK2 is present in the deleted region. Only the paternal allele is expressed for these genes. Based on these data, we made the hypothesis that the loss of this region, in relation to parental origin of deletion, may be of relevance for the hematological phenotype. By comparing hematological data of our 6 cases with a group of 20 SDS patients without evidence of del(20q) in BM, we observed a significant difference for Hb levels (P < 0.012), and a difference slightly above the significance level for RBC counts (P < 0.053): in both cases the values were higher in patients with del(20q). We also report preliminary evidence for an increased number of BFU-E colonies in cases with paternal deletion, data on the presence of the deletion in colonies and in mature circulating lymphocytes.

Original languageEnglish
Pages (from-to)51-58
Number of pages8
JournalGenes Chromosomes and Cancer
Volume56
Issue number1
DOIs
Publication statusPublished - Jan 1 2017

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Diamond
Alleles
Bone Marrow
Genes
Genetic Databases
Exocrine Pancreatic Insufficiency
Erythroid Precursor Cells
Multigene Family
Chromosomes
Lymphocytes
Phenotype
Mutation

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene. / Nacci, Lucia; Valli, Roberto; Maria Pinto, Rita; Zecca, Marco; Cipolli, Marco; Morini, Jacopo; Cesaro, Simone; Boveri, Emanuela; Rosti, Vittorio; Corti, Paola; Ambroni, Maura; Pasquali, Francesco; Danesino, Cesare; Maserati, Emanuela; Minelli, Antonella.

In: Genes Chromosomes and Cancer, Vol. 56, No. 1, 01.01.2017, p. 51-58.

Research output: Contribution to journalArticle

Nacci, L, Valli, R, Maria Pinto, R, Zecca, M, Cipolli, M, Morini, J, Cesaro, S, Boveri, E, Rosti, V, Corti, P, Ambroni, M, Pasquali, F, Danesino, C, Maserati, E & Minelli, A 2017, 'Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene', Genes Chromosomes and Cancer, vol. 56, no. 1, pp. 51-58. https://doi.org/10.1002/gcc.22401
Nacci, Lucia ; Valli, Roberto ; Maria Pinto, Rita ; Zecca, Marco ; Cipolli, Marco ; Morini, Jacopo ; Cesaro, Simone ; Boveri, Emanuela ; Rosti, Vittorio ; Corti, Paola ; Ambroni, Maura ; Pasquali, Francesco ; Danesino, Cesare ; Maserati, Emanuela ; Minelli, Antonella. / Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene. In: Genes Chromosomes and Cancer. 2017 ; Vol. 56, No. 1. pp. 51-58.
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abstract = "Shwachman–Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, skeletal, and hematological abnormalities and bone marrow (BM) dysfunction. Mutations in the SBDS gene cause SDS. Clonal chromosome anomalies are often present in BM, i(7)(q10) and del(20q) being the most frequent ones. We collected 6 SDS cases with del(20q): a cluster of imprinted genes, including L3MBTL1 and SGK2 is present in the deleted region. Only the paternal allele is expressed for these genes. Based on these data, we made the hypothesis that the loss of this region, in relation to parental origin of deletion, may be of relevance for the hematological phenotype. By comparing hematological data of our 6 cases with a group of 20 SDS patients without evidence of del(20q) in BM, we observed a significant difference for Hb levels (P < 0.012), and a difference slightly above the significance level for RBC counts (P < 0.053): in both cases the values were higher in patients with del(20q). We also report preliminary evidence for an increased number of BFU-E colonies in cases with paternal deletion, data on the presence of the deletion in colonies and in mature circulating lymphocytes.",
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AU - Valli, Roberto

AU - Maria Pinto, Rita

AU - Zecca, Marco

AU - Cipolli, Marco

AU - Morini, Jacopo

AU - Cesaro, Simone

AU - Boveri, Emanuela

AU - Rosti, Vittorio

AU - Corti, Paola

AU - Ambroni, Maura

AU - Pasquali, Francesco

AU - Danesino, Cesare

AU - Maserati, Emanuela

AU - Minelli, Antonella

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AB - Shwachman–Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, skeletal, and hematological abnormalities and bone marrow (BM) dysfunction. Mutations in the SBDS gene cause SDS. Clonal chromosome anomalies are often present in BM, i(7)(q10) and del(20q) being the most frequent ones. We collected 6 SDS cases with del(20q): a cluster of imprinted genes, including L3MBTL1 and SGK2 is present in the deleted region. Only the paternal allele is expressed for these genes. Based on these data, we made the hypothesis that the loss of this region, in relation to parental origin of deletion, may be of relevance for the hematological phenotype. By comparing hematological data of our 6 cases with a group of 20 SDS patients without evidence of del(20q) in BM, we observed a significant difference for Hb levels (P < 0.012), and a difference slightly above the significance level for RBC counts (P < 0.053): in both cases the values were higher in patients with del(20q). We also report preliminary evidence for an increased number of BFU-E colonies in cases with paternal deletion, data on the presence of the deletion in colonies and in mature circulating lymphocytes.

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