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

American Journal of Medical Genetics. Part a
Valentina GuidaDe Luca Alessandro

Abstract

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 723 Kb 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.

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Citations

Dec 2, 2015·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Elisa BiaminoAlfredo Brusco
Oct 8, 2016·Facial Plastic Surgery Clinics of North America·Kathleyn A Brandstetter, Krishna G Patel
Jan 10, 2018·Frontiers in Physiology·Theodosia N BartzelaJaap C Maltha
May 11, 2019·Orthodontics & Craniofacial Research·Shankar Rengasamy VenugopalanVeerasathpurush Allareddy
Nov 21, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Samira Spineli-SilvaTarsis P Vieira
Feb 4, 2021·International Journal of Molecular Sciences·Valentina GuidaDavide Gentilini
Jun 3, 2021·Revista paulista de pediatria : orgão oficial da Sociedade de Pediatria de São Paulo·Amanda Rosa PereiraJuliana Cristina Castanheira Guarato

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