Identification of a rare 17p13.3 duplication including the <it>BHLHA9</it> and <it>YWHAE</it> genes in a family with developmental delay and behavioural problems
<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 isolat...
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| Format: | Article |
| Language: | English |
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BMC
2012-10-01
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| Series: | BMC Medical Genetics |
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| Online Access: | http://www.biomedcentral.com/1471-2350/13/93 |
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| author | Capra Valeria Mirabelli-Badenier Marisol Stagnaro Michela Rossi Andrea Tassano Elisa Gimelli Stefania Gimelli Giorgio |
| author_facet | Capra Valeria Mirabelli-Badenier Marisol Stagnaro Michela Rossi Andrea Tassano Elisa Gimelli Stefania Gimelli Giorgio |
| author_sort | Capra Valeria |
| collection | DOAJ |
| description | <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> |
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| id | doaj.art-4e02792d75dd45e6a9ae1c49a85e9415 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-13T23:54:43Z |
| publishDate | 2012-10-01 |
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| spelling | doaj.art-4e02792d75dd45e6a9ae1c49a85e94152022-12-21T23:26:38ZengBMCBMC Medical Genetics1471-23502012-10-011319310.1186/1471-2350-13-93Identification of a rare 17p13.3 duplication including the <it>BHLHA9</it> and <it>YWHAE</it> genes in a family with developmental delay and behavioural problemsCapra ValeriaMirabelli-Badenier MarisolStagnaro MichelaRossi AndreaTassano ElisaGimelli StefaniaGimelli Giorgio<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>http://www.biomedcentral.com/1471-2350/13/93Familial 17p13.3 duplication syndrome<it>PAFAH1B1</it> and <it>YWHAE</it> genesArray-CGH |
| spellingShingle | Capra Valeria Mirabelli-Badenier Marisol Stagnaro Michela Rossi Andrea Tassano Elisa Gimelli Stefania Gimelli Giorgio Identification of a rare 17p13.3 duplication including the <it>BHLHA9</it> and <it>YWHAE</it> genes in a family with developmental delay and behavioural problems BMC Medical Genetics Familial 17p13.3 duplication syndrome <it>PAFAH1B1</it> and <it>YWHAE</it> genes Array-CGH |
| title | Identification of a rare 17p13.3 duplication including the <it>BHLHA9</it> and <it>YWHAE</it> genes in a family with developmental delay and behavioural problems |
| title_full | Identification of a rare 17p13.3 duplication including the <it>BHLHA9</it> and <it>YWHAE</it> genes in a family with developmental delay and behavioural problems |
| title_fullStr | Identification of a rare 17p13.3 duplication including the <it>BHLHA9</it> and <it>YWHAE</it> genes in a family with developmental delay and behavioural problems |
| title_full_unstemmed | Identification of a rare 17p13.3 duplication including the <it>BHLHA9</it> and <it>YWHAE</it> genes in a family with developmental delay and behavioural problems |
| title_short | Identification of a rare 17p13.3 duplication including the <it>BHLHA9</it> and <it>YWHAE</it> genes in a family with developmental delay and behavioural problems |
| title_sort | identification of a rare 17p13 3 duplication including the it bhlha9 it and it ywhae it genes in a family with developmental delay and behavioural problems |
| topic | Familial 17p13.3 duplication syndrome <it>PAFAH1B1</it> and <it>YWHAE</it> genes Array-CGH |
| url | http://www.biomedcentral.com/1471-2350/13/93 |
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