title: Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4.
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.
authors.affiliation: South Australia Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
authors.forename: Laura I
authors.initials: LI
authors.lastname: Rudaks
authors.forename: Lynette
authors.initials: L
authors.lastname: Moore
authors.forename: Karen L
authors.initials: KL
authors.lastname: Shand
authors.forename: Christopher
authors.initials: C
authors.lastname: Wilkinson
authors.forename: Christopher P
authors.initials: CP
authors.lastname: Barnett
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D002526:Cerebellar Diseases / Q000235:genetics* / Q000473:pathology*; D018389:Codon, Nonsense; D004722:Endoribonucleases / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008526:Medulla Oblongata / Q000473:pathology; D008831:Microcephaly / Q000473:pathology; D009122:Muscle Hypertonia / Q000209:etiology / Q000235:genetics / Q000473:pathology; D006831:Polyhydramnios / Q000473:pathology; D011149:Pons / Q000473:pathology*; D011247:Pregnancy
chemical_list: D018389:Codon, Nonsense; D004722:Endoribonucleases; C559616:TSEN54 protein, human