A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum

Valentina Guida, Lorenzo Sinibaldi, Mario Pagnoni, Laura Bernardini, Sara Loddo, Katia Margiotti, Maria Cristina Digilio, Maria Teresa Fadda, Bruno Dallapiccola, Giorgio Iannetti, De Luca Alessandro

Research output: Contribution to journalArticlepeer-review


Oculo auriculo vertebral spectrum (OAVS; OMIM 164210) is a clinically and genetically heterogeneous disorder originating from an abnormal development of the first and second branchial arches. Main clinical characteristics include defects of the aural, oral, mandibular, and vertebral development. Anomalies of the cardiac, pulmonary, renal, skeletal, and central nervous systems have also been described. We report on a 25-year-old male showing a spectrum of clinical manifestations fitting the OAVS diagnosis: hemifacial microsomia, asymmetric mandibular hypoplasia, preauricular pits and tags, unilateral absence of the auditory meatus, dysgenesis of the inner ear and unilateral microphthalmia. A SNP-array analysis identified a de novo previously unreported microduplication spanning 723Kb on chromosome 3q29. This rearrangement was proximal to the 3q29 microdeletion/microduplication syndrome region, and encompassed nine genes including ATP13A3 and XXYLT1, which are involved in the organogenesis and regulation of the Notch pathway, respectively. The present observation further expands the spectrum of genomic rearrangements associated to OAVS, underlying the value of array-based studies in patients manifesting OAVS features.

Original languageEnglish
Pages (from-to)797-801
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
Publication statusPublished - Apr 1 2015


  • 3q29 duplication
  • Oculo auriculo vertebral spectrum
  • SNP-array analysis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)


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