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A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

Authors

  • Ranad Shaheen,

    1. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
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  • Eissa Faqeih,

    1. Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia
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  • Mohammed Z. Seidahmed,

    1. Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia
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  • Asma Sunker,

    1. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
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  • Faten Ezzat Alali,

    1. Department of Obstetrics and Gynecology, Security Forces Hospital, Riyadh, Saudi Arabia
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  • AlQahtani Khadijah,

    1. Department of Maternal Fetal Medicine, Women's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
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  • Fowzan S. Alkuraya

    Corresponding author
    1. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    2. Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Suad University, Riyadh, Saudi Arabia
    3. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
    • Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, MBC 03, P.O. Box 3354, Riyadh 11211, Saudi Arabia
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  • Communicated by Garry R. Cutting

Abstract

Meckel Gruber syndrome (MKS) is an autosomal recessive multisystem disorder that represents a severe form of ciliopathy in humans and is characterized by significant genetic heterogeneity. In this article, we describe the identification of a novel MKS locus MKS8 that we map to TCTN2, in a multiplex consanguineous family. TCTN2 is a paralog of the recently identified Tectonic 1, which has been shown to modulate sonic hedgehog signaling. Expression analysis at different developmental stages of the murine ortholog revealed a spatial and temporal pattern consistent with the MKS phenotype observed in our patient. The exclusion of this and the other seven MKS genes in our collection of consanguineous Arab MKS families confirms the existence of two additional MKS loci. Hum Mutat 32:1–6, 2011. © 2011 Wiley-Liss, Inc.

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