Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

Background Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs’ effects on protein family evolution giving rise to gene duplicates or losses. “Unsuccessful” duplicates that remain...
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Autor*in:	D’Apice, Maria Rosaria [verfasserIn] Novelli, Antonio di Masi, Alessandra Biancolella, Michela Antoccia, Antonio Gullotta, Francesca Licata, Norma Minella, Daniela Testa, Barbara Nardone, Anna Maria Palmieri, Giampiero Calabrese, Emma Biancone, Livia Tanzarella, Caterina Frontali, Marina Sangiuolo, Federica Novelli, Giuseppe Pallone, Francesco

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2015

Schlagwörter:	8q21.2 microdeletion gene aCGH CNV Facial dysmorphisms Inflammation and apoptosis of gastrointestinal mucosa

Anmerkung:	© D'Apice et al.; licensee BioMed Central. 2015. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (

Übergeordnetes Werk:	Enthalten in: BMC medical genetics - London : BioMed Central, 2000, 16(2015), 1 vom: 02. Apr.
Übergeordnetes Werk:	volume:16 ; year:2015 ; number:1 ; day:02 ; month:04

Links:	Volltext

DOI / URN:	10.1186/s12881-015-0164-3

Katalog-ID:	SPR027494284

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520			\|a Background Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs’ effects on protein family evolution giving rise to gene duplicates or losses. “Unsuccessful” duplicates that remain in the genome as pseudogenes often exhibit functional roles. So, changes in gene and pseudogene number may contribute to development or act as susceptibility alleles of diseases. Case presentation We report a de novo heterozygous 271 Kb microdeletion at 8q21.2 region which includes the family of REXO1L genes and pseudogenes in a young man affected by global development delay, progeroid signs, and gastrointestinal anomalies. Molecular and cellular analysis showed that the REXO1L1 gene hemizygosity in a patient’s fibroblasts induces genetic instability and increased apoptosis after treatment with different DNA damage-induced agents. Conclusions The present results support the hypothesis that low copy gene number within REXO1L1 cluster could play a significant role in this complex clinical and cellular phenotype.
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Indexfelder

author_variant	m r d mr mrd a n an m a d ma mad m b mb a a aa f g fg n l nl d m dm b t bt a m n am amn g p gp e c ec l b lb c t ct m f mf f s fs g n gn f p fp
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allfields	10.1186/s12881-015-0164-3 doi (DE-627)SPR027494284 (SPR)s12881-015-0164-3-e DE-627 ger DE-627 rakwb eng D’Apice, Maria Rosaria verfasserin aut Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome? 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © D'Apice et al.; licensee BioMed Central. 2015. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs’ effects on protein family evolution giving rise to gene duplicates or losses. “Unsuccessful” duplicates that remain in the genome as pseudogenes often exhibit functional roles. So, changes in gene and pseudogene number may contribute to development or act as susceptibility alleles of diseases. Case presentation We report a de novo heterozygous 271 Kb microdeletion at 8q21.2 region which includes the family of REXO1L genes and pseudogenes in a young man affected by global development delay, progeroid signs, and gastrointestinal anomalies. Molecular and cellular analysis showed that the REXO1L1 gene hemizygosity in a patient’s fibroblasts induces genetic instability and increased apoptosis after treatment with different DNA damage-induced agents. Conclusions The present results support the hypothesis that low copy gene number within REXO1L1 cluster could play a significant role in this complex clinical and cellular phenotype. 8q21.2 microdeletion (dpeaa)DE-He213 gene (dpeaa)DE-He213 aCGH (dpeaa)DE-He213 CNV (dpeaa)DE-He213 Facial dysmorphisms (dpeaa)DE-He213 Inflammation and apoptosis of gastrointestinal mucosa (dpeaa)DE-He213 Novelli, Antonio aut di Masi, Alessandra aut Biancolella, Michela aut Antoccia, Antonio aut Gullotta, Francesca aut Licata, Norma aut Minella, Daniela aut Testa, Barbara aut Nardone, Anna Maria aut Palmieri, Giampiero aut Calabrese, Emma aut Biancone, Livia aut Tanzarella, Caterina aut Frontali, Marina aut Sangiuolo, Federica aut Novelli, Giuseppe aut Pallone, Francesco aut Enthalten in BMC medical genetics London : BioMed Central, 2000 16(2015), 1 vom: 02. Apr. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:16 year:2015 number:1 day:02 month:04 https://dx.doi.org/10.1186/s12881-015-0164-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2015 1 02 04
spelling	10.1186/s12881-015-0164-3 doi (DE-627)SPR027494284 (SPR)s12881-015-0164-3-e DE-627 ger DE-627 rakwb eng D’Apice, Maria Rosaria verfasserin aut Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome? 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © D'Apice et al.; licensee BioMed Central. 2015. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs’ effects on protein family evolution giving rise to gene duplicates or losses. “Unsuccessful” duplicates that remain in the genome as pseudogenes often exhibit functional roles. So, changes in gene and pseudogene number may contribute to development or act as susceptibility alleles of diseases. Case presentation We report a de novo heterozygous 271 Kb microdeletion at 8q21.2 region which includes the family of REXO1L genes and pseudogenes in a young man affected by global development delay, progeroid signs, and gastrointestinal anomalies. Molecular and cellular analysis showed that the REXO1L1 gene hemizygosity in a patient’s fibroblasts induces genetic instability and increased apoptosis after treatment with different DNA damage-induced agents. Conclusions The present results support the hypothesis that low copy gene number within REXO1L1 cluster could play a significant role in this complex clinical and cellular phenotype. 8q21.2 microdeletion (dpeaa)DE-He213 gene (dpeaa)DE-He213 aCGH (dpeaa)DE-He213 CNV (dpeaa)DE-He213 Facial dysmorphisms (dpeaa)DE-He213 Inflammation and apoptosis of gastrointestinal mucosa (dpeaa)DE-He213 Novelli, Antonio aut di Masi, Alessandra aut Biancolella, Michela aut Antoccia, Antonio aut Gullotta, Francesca aut Licata, Norma aut Minella, Daniela aut Testa, Barbara aut Nardone, Anna Maria aut Palmieri, Giampiero aut Calabrese, Emma aut Biancone, Livia aut Tanzarella, Caterina aut Frontali, Marina aut Sangiuolo, Federica aut Novelli, Giuseppe aut Pallone, Francesco aut Enthalten in BMC medical genetics London : BioMed Central, 2000 16(2015), 1 vom: 02. Apr. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:16 year:2015 number:1 day:02 month:04 https://dx.doi.org/10.1186/s12881-015-0164-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2015 1 02 04
allfields_unstemmed	10.1186/s12881-015-0164-3 doi (DE-627)SPR027494284 (SPR)s12881-015-0164-3-e DE-627 ger DE-627 rakwb eng D’Apice, Maria Rosaria verfasserin aut Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome? 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © D'Apice et al.; licensee BioMed Central. 2015. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs’ effects on protein family evolution giving rise to gene duplicates or losses. “Unsuccessful” duplicates that remain in the genome as pseudogenes often exhibit functional roles. So, changes in gene and pseudogene number may contribute to development or act as susceptibility alleles of diseases. Case presentation We report a de novo heterozygous 271 Kb microdeletion at 8q21.2 region which includes the family of REXO1L genes and pseudogenes in a young man affected by global development delay, progeroid signs, and gastrointestinal anomalies. Molecular and cellular analysis showed that the REXO1L1 gene hemizygosity in a patient’s fibroblasts induces genetic instability and increased apoptosis after treatment with different DNA damage-induced agents. Conclusions The present results support the hypothesis that low copy gene number within REXO1L1 cluster could play a significant role in this complex clinical and cellular phenotype. 8q21.2 microdeletion (dpeaa)DE-He213 gene (dpeaa)DE-He213 aCGH (dpeaa)DE-He213 CNV (dpeaa)DE-He213 Facial dysmorphisms (dpeaa)DE-He213 Inflammation and apoptosis of gastrointestinal mucosa (dpeaa)DE-He213 Novelli, Antonio aut di Masi, Alessandra aut Biancolella, Michela aut Antoccia, Antonio aut Gullotta, Francesca aut Licata, Norma aut Minella, Daniela aut Testa, Barbara aut Nardone, Anna Maria aut Palmieri, Giampiero aut Calabrese, Emma aut Biancone, Livia aut Tanzarella, Caterina aut Frontali, Marina aut Sangiuolo, Federica aut Novelli, Giuseppe aut Pallone, Francesco aut Enthalten in BMC medical genetics London : BioMed Central, 2000 16(2015), 1 vom: 02. Apr. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:16 year:2015 number:1 day:02 month:04 https://dx.doi.org/10.1186/s12881-015-0164-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2015 1 02 04
allfieldsGer	10.1186/s12881-015-0164-3 doi (DE-627)SPR027494284 (SPR)s12881-015-0164-3-e DE-627 ger DE-627 rakwb eng D’Apice, Maria Rosaria verfasserin aut Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome? 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © D'Apice et al.; licensee BioMed Central. 2015. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs’ effects on protein family evolution giving rise to gene duplicates or losses. “Unsuccessful” duplicates that remain in the genome as pseudogenes often exhibit functional roles. So, changes in gene and pseudogene number may contribute to development or act as susceptibility alleles of diseases. Case presentation We report a de novo heterozygous 271 Kb microdeletion at 8q21.2 region which includes the family of REXO1L genes and pseudogenes in a young man affected by global development delay, progeroid signs, and gastrointestinal anomalies. Molecular and cellular analysis showed that the REXO1L1 gene hemizygosity in a patient’s fibroblasts induces genetic instability and increased apoptosis after treatment with different DNA damage-induced agents. Conclusions The present results support the hypothesis that low copy gene number within REXO1L1 cluster could play a significant role in this complex clinical and cellular phenotype. 8q21.2 microdeletion (dpeaa)DE-He213 gene (dpeaa)DE-He213 aCGH (dpeaa)DE-He213 CNV (dpeaa)DE-He213 Facial dysmorphisms (dpeaa)DE-He213 Inflammation and apoptosis of gastrointestinal mucosa (dpeaa)DE-He213 Novelli, Antonio aut di Masi, Alessandra aut Biancolella, Michela aut Antoccia, Antonio aut Gullotta, Francesca aut Licata, Norma aut Minella, Daniela aut Testa, Barbara aut Nardone, Anna Maria aut Palmieri, Giampiero aut Calabrese, Emma aut Biancone, Livia aut Tanzarella, Caterina aut Frontali, Marina aut Sangiuolo, Federica aut Novelli, Giuseppe aut Pallone, Francesco aut Enthalten in BMC medical genetics London : BioMed Central, 2000 16(2015), 1 vom: 02. Apr. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:16 year:2015 number:1 day:02 month:04 https://dx.doi.org/10.1186/s12881-015-0164-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2015 1 02 04
allfieldsSound	10.1186/s12881-015-0164-3 doi (DE-627)SPR027494284 (SPR)s12881-015-0164-3-e DE-627 ger DE-627 rakwb eng D’Apice, Maria Rosaria verfasserin aut Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome? 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © D'Apice et al.; licensee BioMed Central. 2015. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs’ effects on protein family evolution giving rise to gene duplicates or losses. “Unsuccessful” duplicates that remain in the genome as pseudogenes often exhibit functional roles. So, changes in gene and pseudogene number may contribute to development or act as susceptibility alleles of diseases. Case presentation We report a de novo heterozygous 271 Kb microdeletion at 8q21.2 region which includes the family of REXO1L genes and pseudogenes in a young man affected by global development delay, progeroid signs, and gastrointestinal anomalies. Molecular and cellular analysis showed that the REXO1L1 gene hemizygosity in a patient’s fibroblasts induces genetic instability and increased apoptosis after treatment with different DNA damage-induced agents. Conclusions The present results support the hypothesis that low copy gene number within REXO1L1 cluster could play a significant role in this complex clinical and cellular phenotype. 8q21.2 microdeletion (dpeaa)DE-He213 gene (dpeaa)DE-He213 aCGH (dpeaa)DE-He213 CNV (dpeaa)DE-He213 Facial dysmorphisms (dpeaa)DE-He213 Inflammation and apoptosis of gastrointestinal mucosa (dpeaa)DE-He213 Novelli, Antonio aut di Masi, Alessandra aut Biancolella, Michela aut Antoccia, Antonio aut Gullotta, Francesca aut Licata, Norma aut Minella, Daniela aut Testa, Barbara aut Nardone, Anna Maria aut Palmieri, Giampiero aut Calabrese, Emma aut Biancone, Livia aut Tanzarella, Caterina aut Frontali, Marina aut Sangiuolo, Federica aut Novelli, Giuseppe aut Pallone, Francesco aut Enthalten in BMC medical genetics London : BioMed Central, 2000 16(2015), 1 vom: 02. Apr. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:16 year:2015 number:1 day:02 month:04 https://dx.doi.org/10.1186/s12881-015-0164-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2015 1 02 04
language	English
source	Enthalten in BMC medical genetics 16(2015), 1 vom: 02. Apr. volume:16 year:2015 number:1 day:02 month:04
sourceStr	Enthalten in BMC medical genetics 16(2015), 1 vom: 02. Apr. volume:16 year:2015 number:1 day:02 month:04
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	8q21.2 microdeletion gene aCGH CNV Facial dysmorphisms Inflammation and apoptosis of gastrointestinal mucosa
isfreeaccess_bool	true
container_title	BMC medical genetics
authorswithroles_txt_mv	D’Apice, Maria Rosaria @@aut@@ Novelli, Antonio @@aut@@ di Masi, Alessandra @@aut@@ Biancolella, Michela @@aut@@ Antoccia, Antonio @@aut@@ Gullotta, Francesca @@aut@@ Licata, Norma @@aut@@ Minella, Daniela @@aut@@ Testa, Barbara @@aut@@ Nardone, Anna Maria @@aut@@ Palmieri, Giampiero @@aut@@ Calabrese, Emma @@aut@@ Biancone, Livia @@aut@@ Tanzarella, Caterina @@aut@@ Frontali, Marina @@aut@@ Sangiuolo, Federica @@aut@@ Novelli, Giuseppe @@aut@@ Pallone, Francesco @@aut@@
publishDateDaySort_date	2015-04-02T00:00:00Z
hierarchy_top_id	326643788
id	SPR027494284
language_de	englisch
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author	D’Apice, Maria Rosaria
spellingShingle	D’Apice, Maria Rosaria misc 8q21.2 microdeletion misc gene misc aCGH misc CNV misc Facial dysmorphisms misc Inflammation and apoptosis of gastrointestinal mucosa Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
authorStr	D’Apice, Maria Rosaria
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topic_title	Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome? 8q21.2 microdeletion (dpeaa)DE-He213 gene (dpeaa)DE-He213 aCGH (dpeaa)DE-He213 CNV (dpeaa)DE-He213 Facial dysmorphisms (dpeaa)DE-He213 Inflammation and apoptosis of gastrointestinal mucosa (dpeaa)DE-He213
topic	misc 8q21.2 microdeletion misc gene misc aCGH misc CNV misc Facial dysmorphisms misc Inflammation and apoptosis of gastrointestinal mucosa
topic_unstemmed	misc 8q21.2 microdeletion misc gene misc aCGH misc CNV misc Facial dysmorphisms misc Inflammation and apoptosis of gastrointestinal mucosa
topic_browse	misc 8q21.2 microdeletion misc gene misc aCGH misc CNV misc Facial dysmorphisms misc Inflammation and apoptosis of gastrointestinal mucosa
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title	Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
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title_full	Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
author_sort	D’Apice, Maria Rosaria
journal	BMC medical genetics
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author_browse	D’Apice, Maria Rosaria Novelli, Antonio di Masi, Alessandra Biancolella, Michela Antoccia, Antonio Gullotta, Francesca Licata, Norma Minella, Daniela Testa, Barbara Nardone, Anna Maria Palmieri, Giampiero Calabrese, Emma Biancone, Livia Tanzarella, Caterina Frontali, Marina Sangiuolo, Federica Novelli, Giuseppe Pallone, Francesco
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author-letter	D’Apice, Maria Rosaria
doi_str_mv	10.1186/s12881-015-0164-3
title_sort	deletion of rexo1l1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
title_auth	Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
abstract	Background Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs’ effects on protein family evolution giving rise to gene duplicates or losses. “Unsuccessful” duplicates that remain in the genome as pseudogenes often exhibit functional roles. So, changes in gene and pseudogene number may contribute to development or act as susceptibility alleles of diseases. Case presentation We report a de novo heterozygous 271 Kb microdeletion at 8q21.2 region which includes the family of REXO1L genes and pseudogenes in a young man affected by global development delay, progeroid signs, and gastrointestinal anomalies. Molecular and cellular analysis showed that the REXO1L1 gene hemizygosity in a patient’s fibroblasts induces genetic instability and increased apoptosis after treatment with different DNA damage-induced agents. Conclusions The present results support the hypothesis that low copy gene number within REXO1L1 cluster could play a significant role in this complex clinical and cellular phenotype. © D'Apice et al.; licensee BioMed Central. 2015. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
abstractGer	Background Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs’ effects on protein family evolution giving rise to gene duplicates or losses. “Unsuccessful” duplicates that remain in the genome as pseudogenes often exhibit functional roles. So, changes in gene and pseudogene number may contribute to development or act as susceptibility alleles of diseases. Case presentation We report a de novo heterozygous 271 Kb microdeletion at 8q21.2 region which includes the family of REXO1L genes and pseudogenes in a young man affected by global development delay, progeroid signs, and gastrointestinal anomalies. Molecular and cellular analysis showed that the REXO1L1 gene hemizygosity in a patient’s fibroblasts induces genetic instability and increased apoptosis after treatment with different DNA damage-induced agents. Conclusions The present results support the hypothesis that low copy gene number within REXO1L1 cluster could play a significant role in this complex clinical and cellular phenotype. © D'Apice et al.; licensee BioMed Central. 2015. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
abstract_unstemmed	Background Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs’ effects on protein family evolution giving rise to gene duplicates or losses. “Unsuccessful” duplicates that remain in the genome as pseudogenes often exhibit functional roles. So, changes in gene and pseudogene number may contribute to development or act as susceptibility alleles of diseases. Case presentation We report a de novo heterozygous 271 Kb microdeletion at 8q21.2 region which includes the family of REXO1L genes and pseudogenes in a young man affected by global development delay, progeroid signs, and gastrointestinal anomalies. Molecular and cellular analysis showed that the REXO1L1 gene hemizygosity in a patient’s fibroblasts induces genetic instability and increased apoptosis after treatment with different DNA damage-induced agents. Conclusions The present results support the hypothesis that low copy gene number within REXO1L1 cluster could play a significant role in this complex clinical and cellular phenotype. © D'Apice et al.; licensee BioMed Central. 2015. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
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container_issue	1
title_short	Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
url	https://dx.doi.org/10.1186/s12881-015-0164-3
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author2	Novelli, Antonio di Masi, Alessandra Biancolella, Michela Antoccia, Antonio Gullotta, Francesca Licata, Norma Minella, Daniela Testa, Barbara Nardone, Anna Maria Palmieri, Giampiero Calabrese, Emma Biancone, Livia Tanzarella, Caterina Frontali, Marina Sangiuolo, Federica Novelli, Giuseppe Pallone, Francesco
author2Str	Novelli, Antonio di Masi, Alessandra Biancolella, Michela Antoccia, Antonio Gullotta, Francesca Licata, Norma Minella, Daniela Testa, Barbara Nardone, Anna Maria Palmieri, Giampiero Calabrese, Emma Biancone, Livia Tanzarella, Caterina Frontali, Marina Sangiuolo, Federica Novelli, Giuseppe Pallone, Francesco
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up_date	2024-07-04T02:06:52.730Z
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Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

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