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Type: Journal article
Title: Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene
Author: Nagy, R.
Wang, H.
Albrecht, B.
Wieczorek, D.
Gillessen-Kaesbach, G.
Haan, E.
Meinecke, P.
de la Chapelle, A.
Westman, J.
Citation: Clinical Genetics: an international journal of genetics and molecular medicine, 2012; 82(2):140-146
Publisher: Wiley-Blackwell Publishing Inc
Issue Date: 2012
ISSN: 1399-0004
Statement of
R. Nagy, H. Wang, B. Albrecht, D. Wieczorek, G. Gillessen-Kaesbach, E. Haan, P. Meinecke, A. de la Chapelle and J.A. Westman
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.
Keywords: MOPD I
small nuclear RNA
Taybi-Linder Syndrome
Rights: © 2011 John Wiley & Sons
DOI: 10.1111/j.1399-0004.2011.01756.x
Appears in Collections:Aurora harvest
Paediatrics publications

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