Publication: Disruption of ST5 is associated with mental-retardation and multiple congenital anomalies
Disruption of ST5 is associated with mental-retardation and multiple congenital anomalies
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Göhring, I., Tagariello, A., Endele, S., Stolt, C. C., Ghassibé, M., Fisher, M., Thiel, C. T., Trautmann, U., Vikkula, M., Winterpacht, A., FitzPatrick, D. R., & Rauch, A. (2010). Disruption of ST5 is associated with mental-retardation and multiple congenital anomalies. Journal of Medical Genetics, 47(2), 91–98. https://doi.org/10.1136/jmg.2009.069799
Abstract
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Abstract
We observed a patient with a cryptic subtelomeric de novo balanced translocation 46,XY.ish t(11;20)(p15.4;q13.2) presenting with severe mental retardation, muscular hypotonia, seizures, bilateral sensorineural hearing loss, submucous cleft palate, persistent ductus Botalli, unilateral cystic kidney dysplasia and frequent infections. Fluorescence in situ hybridization mapping and sequencing of the translocation breakpoints showed that no known genes are disrupted at 20q13.2 and that ST5 (suppression of tumorigenicity 5; MIM 140750) is
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- Göhring, I
- Tagariello, A
- Endele, S
- Stolt, C C
- Ghassibé, M
- Fisher, M
- Thiel, C T
- Trautmann, U
- Vikkula, M
- Winterpacht, A
- FitzPatrick, D R
- Rauch, A
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Göhring, I., Tagariello, A., Endele, S., Stolt, C. C., Ghassibé, M., Fisher, M., Thiel, C. T., Trautmann, U., Vikkula, M., Winterpacht, A., FitzPatrick, D. R., & Rauch, A. (2010). Disruption of ST5 is associated with mental-retardation and multiple congenital anomalies. Journal of Medical Genetics, 47(2), 91–98. https://doi.org/10.1136/jmg.2009.069799
