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*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)528-540
Number of pages13
JournalEuropean Journal of Human Genetics
Issue number5
StatePublished - May 2005
Externally publishedYes


  • Deletion 11p
  • Multiple exostoses
  • Natural panel
  • Parietal foramina
  • Potocki-Shaffer syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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