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Clinical and molecular characterization of a second case of 7p22.1 microduplication

Authors

  • Egle Preiksaitiene,

    Corresponding author
    1. Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
    2. Centre for Medical Genetics, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania
    • Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškiö st. 2, LT 08661 Vilnius, Lithuania.

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  • Jurate Kasnauskiene,

    1. Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
    2. Centre for Medical Genetics, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania
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  • Zivile Ciuladaite,

    1. Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
    2. Centre for Medical Genetics, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania
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  • Birute Tumiene,

    1. Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
    2. Centre for Medical Genetics, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania
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  • Philippos C. Patsalis,

    1. Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
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  • Vaidutis Kučinskas

    1. Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
    2. Centre for Medical Genetics, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania
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  • How to Cite this Article: Preiksaitiene E, Kasnauskiene J, Ciuladaite Z, Tumiene B, Patsalis PC, Kučinskas V. 2012. Clinical and molecular characterization of a second case of 7p22.1 microduplication. Am J Med Genet Part A. 158A:1200–1203.

Abstract

The use of high-resolution microarray technology for investigation of patients with intellectual disability and/or congenital anomalies provided the unique possibility to identify new microdeletion/microduplication syndromes and discover the dosage sensitive genes, which are implicated in the manifestation of various genetic conditions. Microduplication of the 7p22.1 region, 1.7 Mb in size, has very recently been reported, representing the smallest interstitional 7p duplication, associated with specific facial features and speech delay. We report on a patient with an even smaller 7p22.1 de novo microduplication, 1 Mb in size, detected in a 14.5-year-old patient with mild intellectual disability and similar facial dysmorphism, including macrocephaly, ocular hypertelorism, low-set ears, and other features. There are 15 RefSeq genes included in this duplication. ACTB gene is a strong candidate gene for the alteration of craniofacial development. Further cases with similar duplications will contribute to the delineation of a potential new microduplication syndrome of 7p22.1. © 2012 Wiley Periodicals, Inc.

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