Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

Keiko Wakui, Guiliana Gregato, Blake C. Ballif, Caron D. Glotzbach, Kristen A. Bailey, Pao Lin Kuo, Whui Chen Sue, Leslie J. Sheffield, Mira Irons, Enrique G. Gomez, Jacqueline T. Hecht, Lorraine Potocki, Lisa G. Shaffer

研究成果: Article

26 引文 斯高帕斯(Scopus)

摘要

Potocki-Shaffer syndrome (PSS) is a contiguous gene deletion syndrome that results from haploinsufficiency of at least two genes within the short arm of chromosome 11 [del(11)(p11.2p12)]. The clinical features of PSS can include developmental delay, mental retardation, multiple exostoses, parietal foramina, enlarged anterior fontanel, minor craniofacial anomalies, ophthalmologic anomalies, and genital abnormalities in males. We constructed a natural panel of 11p11.2-p13 deletions using cell lines from 10 affected individuals, fluorescence in situ hybridization (FISH), microsatellite analyses, and array-based comparative genomic hybridization (array CGH). We then compared the deletion sizes and clinical features between affected individuals. The full spectrum of PSS manifests when deletions are at least 2.1 Mb in size, spanning from D11S1393 to D11S1385/D11S1319 (44.6-46.7 Mb from the 11p terminus) and encompassing EXT2, responsible for multiple exostoses, and ALX4, causing parietal foramina. Yet one subject with parietal foramina whose deletion does not include ALX4 indicates that ALX4 in this subject may be rendered functionally haploinsufficient by a position effect. Based on comparative deletion mapping of eight individuals with the full PSS syndrome including mental retardation and two PSS families with no mental retardation, at least one gene related to mental retardation is likely located between D11S554 and D11S1385/D11S1319, 45.6-46.7 Mb from the 11p terminus.

原文English
頁(從 - 到)528-540
頁數13
期刊European Journal of Human Genetics
13
發行號5
DOIs
出版狀態Published - 2005 五月 1

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Wakui, K., Gregato, G., Ballif, B. C., Glotzbach, C. D., Bailey, K. A., Kuo, P. L., Sue, W. C., Sheffield, L. J., Irons, M., Gomez, E. G., Hecht, J. T., Potocki, L., & Shaffer, L. G. (2005). Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. European Journal of Human Genetics, 13(5), 528-540. https://doi.org/10.1038/sj.ejhg.5201366