Autosomal Dominant Oculoauriculovertebral Spectrum and 14q23.1 Microduplication

作者：Juliana Ballesta Martinez Maria; Lopez Gonzalez Vanesa; Armengol Dulcet Lluis; Rodriguez Santiago Benjamin; Garcia Minaur Sixto; Guillen Navarro Encarna

来源：American Journal of Medical Genetics, Part A, 2013, 161(8): 2030-2035.

DOI：10.1002/ajmg.a.36007

• oculoauriculovertebral spectrum
• hemifacial microsomia
• Goldenhar syndrome
• 14q23
• 1 duplication
• OTX2

Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is characterized by anomalies derived from an abnormal development of the first and second branchial arches, with marked inter and intra-familial phenotypic variability. Main clinical features are defects on aural, oral, mandibular, and vertebral development. Cardiac, pulmonary, renal, skeletal, and central nervous system anomalies have also been described. Most affected individuals are isolated cases in otherwise normal families. Autosomal dominant inheritance has been observed in about 2-10% of cases and linkage analysis as well as array-CGH analysis have detected candidate loci for OAVS offering new insights into the understanding of pathogenesis of this entity. We describe a family with clinical diagnosis of OAVS, autosomal dominant inheritance pattern, and detection of a 14q23.1 duplication of 1.34Mb in size which segregates with the phenotype. O , which is involved in the development of the forebrain, eyes, and ears, and appears to be a good candidate gene for OAVS.

• 出版日期2013-8