Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4

Clinical Genetics
C R HallJ T Hecht

Abstract

Multiple exostosis, biparietal foramina, minor craniofacial abnormalities, and mental retardation are characteristic of the syndrome associated with a proximal deletion of 11p (MIM # 601224), which has been shown to be a true contiguous gene deletion syndrome. The presence of multiple exostosis is associated with deletion of the EXT2 gene. Similarly, the presence of biparietal foramina has been shown to be associated with the deletion of ALX4 located proximally to EXT2. Specific genes related to mental retardation and craniofacial abnormalities, however, have yet to be identified. We report on a family with a microdeletion of 11(pll.2p11.2) with multiple exostosis and biparietal foramina without mental retardation or craniofacial abnormalities. Our results suggest that genes related to mental retardation and craniofacial development must be located outside of the D11S1785-D11S1385 region.

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Citations

Dec 2, 2005·European Journal of Human Genetics : EJHG·Lampros A MavrogiannisAndrew O M Wilkie
Sep 25, 2008·Pakistan Journal of Biological Sciences : PJBS·Ali Mohammad ForoughmandMansour Mohammadi
Jan 28, 2017·American Journal of Medical Genetics. Part a·Caroline McCoolLorraine Potocki
May 27, 2003·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Joy M Richman, Sang-Hwy Lee
Dec 15, 2012·American Journal of Medical Genetics. Part a·Nathan D MontgomeryArthur S Aylsworth
Feb 6, 2015·Journal of Korean Medical Science·Young Bae SohnOk-Hwa Kim
Feb 9, 2010·American Journal of Medical Genetics. Part a·Daniel T SwarrLorraine Potocki
Dec 5, 2012·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Christoph J GriessenauerR Shane Tubbs
Sep 26, 2020·American Journal of Medical Genetics. Part a·Erina SasakiWilliam Reardon
Sep 4, 2015·American Journal of Medical Genetics. Part a·Jonathan D J LabonneHyung-Goo Kim
May 10, 2020·Andrology·Ching H ChenCarolina J Jorgez
Mar 27, 2021·American Journal of Clinical Pathology·Elizabeth C BaugherSumathilatha Sakthi Velavan
Jan 25, 2005·American Journal of Medical Genetics. Part a·Louise ChuangPao-Lin Kuo

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