Novel TSEN54 Mutation Causing Pontocerebellar Hypoplasia Type 4 - 06/08/11
Communications should be addressed to: Dr. Barnett; South Australia Clinical Genetics Service; Women’s and Children’s Hospital; 72 King William Road; North Adelaide, South Australia 5006, Australia.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.
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Vol 45 - N° 3
P. 185-188 - septembre 2011 Retour au numéro
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