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

Maria R osaria D'Apice, Antonio Novelli, Alessandra di Masi, Michela Biancolella, Antonio Antoccia, Francesca Gullotta, Norma Licata, Daniela Minella, Barbara Testa, Anna M aria Nardone, Giampiero Palmieri, Emma Calabrese, Livia Biancone, Caterina Tanzarella, Marina Frontali, Federica Sangiuolo, Giuseppe Novelli, Francesco Pallone

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)20
Number of pages1
JournalBMC Medical Genetics
Volume16
DOIs
Publication statusPublished - 2015

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?'. Together they form a unique fingerprint.

Cite this