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New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene

Authors

  • Malwina Czarny-Ratajczak,

    Corresponding author
    1. Center for Gene Therapy, Tulane University Health Sciences Center, New Orleans, Louisiana
    2. Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland
    • Tulane Center for Aging, Department of Internal Medicine, School of Medicine, Tulane University, 1430 Tulane Ave., SL-12, New Orleans, LA 70112.
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  • Tadeusz Bieganski,

    1. Department of Diagnostic Imaging, Polish Mother's Memorial Hospital, Lodz, Poland
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  • Piotr Rogala,

    1. Department of Spine Surgery, Orthopedic Oncology and Traumatology, Poznan University of Medical Sciences, Poznan, Poland
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  • Maciej Glowacki,

    1. Department of Pediatric Orthopedics and Traumatology, Poznan University of Medical Sciences, Poznan, Poland
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  • Tomasz Trzeciak,

    1. Department of Orthopedics and Traumatology, Poznan University of Medical Sciences, Poznan, Poland
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  • Kazimierz Kozlowski

    Corresponding author
    1. Department of Radiology, New Children's Hospital at Westmead, Sydney, Australia
    • New Children's Hospital at Westmead, Westmead, Sydney, NSW 2145, Australia.
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  • How to Cite this Article: Czarny-Ratajczak M, Bieganski T, Rogala P, Glowacki M, Trzeciak T, Kozlowski K. 2010. New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. Am J Med Genet Part A 152A:3036–3042.

Abstract

DTDST mutations cause a spectrum of diastrophic dysplasia disorders characterized by defects of proteoglycans sulfation. Reduction of sulfate/chloride antiporter activity is manifested by lower sulfate uptake and depends on a combination of mutations in DTDST. We analyzed a family with an autosomal recessive form of bone dysplasia. Three affected brothers from this family are compound heterozygotes for C653S/A715V mutations. We classified their phenotype as a new intermediate form between diastrophic dysplasia and multiple epiphyseal dysplasia, manifested by shortening of stature, metatarsus adductus/club foot, mild brachydactyly, proximally placed thumbs and clinodactyly of the fifth fingers. Radiographs document platyspondyly most marked in the lower thoracic and upper lumbar spine, epiphyseal dysplasia affecting predominantly the femoral heads, widening of the metaphyses, narrow growth cartilage and multilayered patellae. Exaggerated lesser trochanters of femur, that is, “monkey wrench” sign, elevated greater trochanters, thin upper pubic rami, grossly normal carpal/tarsal bones and severe, early onset osteoarthritis were other notable features. © 2010 Wiley-Liss, Inc.

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