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<p>Abstract</p> <p>Background</p> <p>Deletions and duplications of the <it>PAFAH1B1</it> and <it>YWHAE</it> genes in 17p13.3 are associated with different clinical phenotypes. In particular, deletion of <it>PAFAH1B1</it> causes isolated lissencephaly while deletions involving both <it>PAFAH1B1</it> and <it>YWHAE</it> cause Miller-Dieker syndrome. Isolated duplications of <it>PAFAH1B1</it> have been associated with mild developmental delay and hypotonia, while isolated duplications of <it>YWHAE</it> have been associated with autism. In particular, different dysmorphic features associated with <it>PAFAH1B1</it> or <it>YWHAE</it> duplication have suggested the need to classify the patient clinical features in two groups according to which gene is involved in the chromosomal duplication.</p> <p>Methods</p> <p>We analyze the proband and his family by classical cytogenetic and array-CGH analyses. The putative rearrangement was confirmed by fluorescence in situ hybridization.</p> <p>Results</p> <p>We have identified a family segregating a 17p13.3 duplication extending 329.5 kilobases by FISH and array-CGH involving the <it>YWHAE</it> gene, but not <it>PAFAH1B1,</it> affected by a mild dysmorphic phenotype with associated autism and mental retardation. We propose that <it>BHLHA9</it>, <it>YWHAE</it>, and <it>CRK</it> genes contribute to the phenotype of our patient. The small chromosomal duplication was inherited from his mother who was affected by a bipolar and borderline disorder and was alcohol addicted.</p> <p>Conclusions</p> <p>We report an additional familial case of small 17p13.3 chromosomal duplication including only <it>BHLHA9</it>, <it>YWHAE,</it> and <it>CRK</it> genes. Our observation and further cases with similar microduplications are expected to be diagnosed, and will help better characterise the clinical spectrum of phenotypes associated with 17p13.3 microduplications.</p>