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Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.
Clin Genet 2012; 82(2):140-6CG

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.

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.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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 -