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

Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen‐Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Microcephalic osteodysplastic primordial dwarfism type I (MOPD I) is a rare autosom...

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Published in:Clinical genetics 2012-08, Vol.82 (2), p.140-146
Main Authors: Nagy, R, Wang, H, Albrecht, B, Wieczorek, D, Gillessen- Kaesbach, G, Haan, E, Meinecke, P, de la Chapelle, A, Westman, JA
Format: Article
Language:English
Subjects:
Alleles
Biological and medical sciences
Brain - pathology
Dwarfism
Dwarfism - diagnosis
Dwarfism - genetics
Facies
Female
Fetal Growth Retardation - diagnosis
Fetal Growth Retardation - genetics
Fundamental and applied biological sciences. Psychology
Genes
Genetics of eukaryotes. Biological and molecular evolution
Humans
Infant
Life Expectancy
Magnetic Resonance Imaging
Male
Medical genetics
Medical sciences
Microcephaly - diagnosis
Microcephaly - genetics
Molecular and cellular biology
MOPD I
Mutation
Osteochondrodysplasias - diagnosis
Osteochondrodysplasias - genetics
Phenotype
RNA, Small Nuclear - genetics
RNU4ATAC
small nuclear RNA
Taybi-Linder syndrome
U4atac
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Summary:Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen‐Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. 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.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2011.01756.x