TY - JOUR
T1 - Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features
T2 - a novel recognizable microdeletion syndrome?
AU - D'Apice, Maria R osaria
AU - Novelli, Antonio
AU - di Masi, Alessandra
AU - Biancolella, Michela
AU - Antoccia, Antonio
AU - Gullotta, Francesca
AU - Licata, Norma
AU - Minella, Daniela
AU - Testa, Barbara
AU - Nardone, Anna M aria
AU - Palmieri, Giampiero
AU - Calabrese, Emma
AU - Biancone, Livia
AU - Tanzarella, Caterina
AU - Frontali, Marina
AU - Sangiuolo, Federica
AU - Novelli, Giuseppe
AU - Pallone, Francesco
PY - 2015
Y1 - 2015
N2 - 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.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.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.
AB - 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.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.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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U2 - 10.1186/s12881-015-0164-3
DO - 10.1186/s12881-015-0164-3
M3 - Article
C2 - 25927938
AN - SCOPUS:84926682547
VL - 16
SP - 20
JO - BMC Medical Genetics
JF - BMC Medical Genetics
SN - 1471-2350
ER -