A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum.
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.
IRCCS-Casa Sollievo della Sofferenza, Mendel Institute, Rome, Italy.
Valentina
V
Guida
Lorenzo
L
Sinibaldi
Mario
M
Pagnoni
Laura
L
Bernardini
Sara
S
Loddo
Katia
K
Margiotti
Maria Cristina
MC
Digilio
Maria Teresa
MT
Fadda
Bruno
B
Dallapiccola
Giorgio
G
Iannetti
De Luca
de L
Alessandro
D000328:Adult; D025063:Chromosome Disorders / Q000000981:diagnostic imaging* / Q000235:genetics; D058674:Chromosome Duplication / Q000235:genetics; D006053:Goldenhar Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D008297:Male; D025202:Molecular Diagnostic Techniques; D020641:Polymorphism, Single Nucleotide; D011859:Radiography
3q29 duplication; Oculo auriculo vertebral spectrum; SNP-array analysis