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

R. Nagy; H. Wang; B. Albrecht; D. Wieczorek; G. Gillessen-Kaesbach; E. Haan; P. Meinecke; A. de la Chapelle; J. A. Westman

doi:10.1111/j.1399-0004.2011.01756.x

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

R. Nagy^*, H. Wang, B. Albrecht, D. Wieczorek, G. Gillessen-Kaesbach, E. Haan, P. Meinecke, A. de la Chapelle, J. A. Westman

^*Corresponding author for this work

Institute of Human Genetics

24 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 language	English
Journal	Clinical Genetics
Volume	82
Issue number	2
Pages (from-to)	140-146
Number of pages	7
ISSN	0009-9163
DOIs	https://doi.org/10.1111/j.1399-0004.2011.01756.x
Publication status	Published - 01.08.2012

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title = "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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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.

PY - 2012/8/1

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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.

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

Abstract

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