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

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.

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  • Authors+Show Affiliations

    ,

    Division of Human Genetics, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, 2001 Polaris Parkway Columbus, OH 43240, USA. rebecca.nagy@osumc.edu

    , , , , , , ,

    Source

    Clinical genetics 82:2 2012 Aug pg 140-6

    MeSH

    Alleles
    Brain
    Dwarfism
    Facies
    Female
    Fetal Growth Retardation
    Humans
    Infant
    Life Expectancy
    Magnetic Resonance Imaging
    Male
    Microcephaly
    Mutation
    Osteochondrodysplasias
    Phenotype
    RNA, Small Nuclear

    Pub Type(s)

    Journal Article
    Research Support, N.I.H., Extramural
    Research Support, Non-U.S. Gov't

    Language

    eng

    PubMed ID

    21815888

    Citation

    Nagy, R, et al. "Microcephalic Osteodysplastic Primordial Dwarfism Type I With Biallelic Mutations in the RNU4ATAC Gene." Clinical Genetics, vol. 82, no. 2, 2012, pp. 140-6.
    Nagy R, Wang H, Albrecht B, et al. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clin Genet. 2012;82(2):140-6.
    Nagy, R., Wang, H., Albrecht, B., Wieczorek, D., Gillessen-Kaesbach, G., Haan, E., ... Westman, J. A. (2012). Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clinical Genetics, 82(2), pp. 140-6. doi:10.1111/j.1399-0004.2011.01756.x.
    Nagy R, et al. Microcephalic Osteodysplastic Primordial Dwarfism Type I With Biallelic Mutations in the RNU4ATAC Gene. Clin Genet. 2012;82(2):140-6. PubMed PMID: 21815888.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. AU - Nagy,R, AU - Wang,H, AU - Albrecht,B, AU - Wieczorek,D, AU - Gillessen-Kaesbach,G, AU - Haan,E, AU - Meinecke,P, AU - de la Chapelle,A, AU - Westman,J A, Y1 - 2011/08/28/ PY - 2011/8/6/entrez PY - 2011/8/6/pubmed PY - 2012/11/14/medline SP - 140 EP - 6 JF - Clinical genetics JO - Clin. Genet. VL - 82 IS - 2 N2 - 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. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/21815888/Microcephalic_osteodysplastic_primordial_dwarfism_type_I_with_biallelic_mutations_in_the_RNU4ATAC_gene_ L2 - https://doi.org/10.1111/j.1399-0004.2011.01756.x DB - PRIME DP - Unbound Medicine ER -