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

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Abstract

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
Pages (from-to)528-540
Number of pages13
JournalEuropean Journal of Human Genetics
Volume13
Issue number5
DOIs
Publication statusPublished - 2005 May 1

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Intellectual Disability
Multiple Hereditary Exostoses
Cranial Fontanelles
Haploinsufficiency
Chromosomes, Human, Pair 11
Comparative Genomic Hybridization
Gene Deletion
Fluorescence In Situ Hybridization
Microsatellite Repeats
Genes
Potocki-Shaffer syndrome
Cell Line
Parietal Foramina

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Wakui, Keiko ; Gregato, Guiliana ; Ballif, Blake C. ; Glotzbach, Caron D. ; Bailey, Kristen A. ; Kuo, Pao-Lin ; Sue, Whui Chen ; Sheffield, Leslie J. ; Irons, Mira ; Gomez, Enrique G. ; Hecht, Jacqueline T. ; Potocki, Lorraine ; Shaffer, Lisa G. / Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. In: European Journal of Human Genetics. 2005 ; Vol. 13, No. 5. pp. 528-540.
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abstract = "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.",
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Wakui, K, Gregato, G, Ballif, BC, Glotzbach, CD, Bailey, KA, Kuo, P-L, Sue, WC, Sheffield, LJ, Irons, M, Gomez, EG, Hecht, JT, Potocki, L & Shaffer, LG 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, vol. 13, no. 5, pp. 528-540. https://doi.org/10.1038/sj.ejhg.5201366

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. / Wakui, Keiko; Gregato, Guiliana; Ballif, Blake C.; Glotzbach, Caron D.; Bailey, Kristen A.; Kuo, Pao-Lin; Sue, Whui Chen; Sheffield, Leslie J.; Irons, Mira; Gomez, Enrique G.; Hecht, Jacqueline T.; Potocki, Lorraine; Shaffer, Lisa G.

In: European Journal of Human Genetics, Vol. 13, No. 5, 01.05.2005, p. 528-540.

Research output: Contribution to journalArticle

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T1 - Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

AU - Wakui, Keiko

AU - Gregato, Guiliana

AU - Ballif, Blake C.

AU - Glotzbach, Caron D.

AU - Bailey, Kristen A.

AU - Kuo, Pao-Lin

AU - Sue, Whui Chen

AU - Sheffield, Leslie J.

AU - Irons, Mira

AU - Gomez, Enrique G.

AU - Hecht, Jacqueline T.

AU - Potocki, Lorraine

AU - Shaffer, Lisa G.

PY - 2005/5/1

Y1 - 2005/5/1

N2 - 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.

AB - 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.

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