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https://hdl.handle.net/2440/71555
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Type: | Journal article |
Title: | Model TSEN54 mutation causing Pontocerebellar Hypoplasia Type 4 |
Author: | Rudaks, L. Moore, L. Shand, K. Wilkinson, C. Barnett, C. |
Citation: | Pediatric Neurology, 2011; 45(3):185-188 |
Publisher: | Elsevier Science Inc |
Issue Date: | 2011 |
ISSN: | 0887-8994 1873-5150 |
Statement of Responsibility: | Laura I. Rudaks, Lynette Moore, Karen L. Shand, Christopher Wilkinson, Christopher P. Barnett |
Abstract: | Pontocerebellar hypoplasia exhibits a diverse range of etiologies, including six known autosomal recessive, single gene disorders. We describe a molecularly confirmed case of pontocerebellar hypoplasia type 4, a rare and severe neonatal phenotype with a novel TSEN54 mutation, presenting with polyhydramnios, hypertonia, and early neonatal death. The patient manifested severe hypoplasia of the cerebellum and brainstem. The neuropathologic findings in pontocerebellar hypoplasia type 4 develop late in gestation, and therefore prenatal diagnosis with ultrasonography is of limited use. Establishing a molecular diagnosis in the proband is critical for allowing couples to plan future pregnancies. |
Keywords: | Brain Medulla Oblongata Pons Humans Microcephaly Cerebellar Diseases Muscle Hypertonia Polyhydramnios Endoribonucleases Codon, Nonsense Fatal Outcome Pregnancy Heterozygote Adult Infant, Newborn Female |
Rights: | Copyright © 2011 Elsevier |
DOI: | 10.1016/j.pediatrneurol.2011.05.009 |
Published version: | http://dx.doi.org/10.1016/j.pediatrneurol.2011.05.009 |
Appears in Collections: | Aurora harvest Paediatrics publications |
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