Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

Rebecca Nagy, Heng Wang, Beate Albrecht, Dagmar Wieczorek, Gabriele Gillessen- Kaesbach, Eric Haan, Peter Meinecke, Albert de la Chapelle, Judith Westman

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    30 Citations (Scopus)

    Abstract

    Microcephalic osteodysplastic primordial dwarfism type I (MOPD I) is a rare autosomal recessive developmental disorder characterized by extreme intrauterine growth retardation, severe microcephaly, central nervous system abnormalities, dysmorphic facial features, skin abnormalities, skeletal changes, limb deformations, and early death. Recently, mutations in the RNU4ATAC gene, which encodes U4atac, a small nuclear RNA that is a crucial component of the minor spliceosome, were found to cause MOPD I. MOPD I is the first disease known to be associated with a defect in small nuclear RNAs. We describe here the clinical and molecular data for 17 cases of MOPD I, including 15 previously unreported cases, all carrying biallelic mutations in the RNU4ATAC gene.

    Original languageEnglish
    Pages (from-to)140-146
    Number of pages7
    JournalClinical Genetics
    Volume82
    Issue number2
    DOIs
    Publication statusPublished - 2012

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    Nagy, R., Wang, H., Albrecht, B., Wieczorek, D., Gillessen- Kaesbach, G., Haan, E., Meinecke, P., de la Chapelle, A., & Westman, J. (2012). Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clinical Genetics, 82(2), 140-146. https://doi.org/10.1111/j.1399-0004.2011.01756.x