1. Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations.
- Author
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Zago S, Silvestri E, Arcangeli T, Calisesi M, Romeo C, Parmeggiani G, Parrini E, Cetica V, Guerrini R, Palicelli A, and Bonasoni MP
- Subjects
- Humans, Female, Pregnancy, Mutation, Missense, Mutation, Labor Presentation, Pentosyltransferases genetics, Walker-Warburg Syndrome diagnosis, Walker-Warburg Syndrome genetics, Cobblestone Lissencephaly genetics, Hydrocephalus diagnostic imaging, Hydrocephalus genetics
- Abstract
Background: Walker-Warburg syndrome (WWS) (OMIM #236670) is an autosomal recessive disorder characterized by congenital muscular dystrophy, hydrocephalus, cobblestone lissencephaly, and retinal dysplasia. The main genes involved are: POMT1, POMT2, POMGNT1, FKTN, LARGE1 , and FKRP . Case report: We present a fetus with WWS showing at ultrasound severe triventricular hydrocephalus. Pregnancy was legally terminated at 21 weeks +2 days of gestation. In vivo and postmortem magnetic resonance revealed corpus callosum agenesis and cerebellar hypoplasia. Cobblestone lissencephaly was observed at post-mortem. Next generation sequencing (NGS) of 193 genes, performed on fetal DNA extracted from amniocytes, detected two heterozygous mutations in the POMT2 gene. The c.1238G > C p.(Arg413Pro) mutation was paternally inherited and is known to be pathogenic. The c.553G > A p.(Gly185Arg) mutation was maternally inherited and has not been previously described. Conclusion: Compound heterozygous mutations in the POMT2 gene caused a severe cerebral fetal phenotype diagnosed prenatally at midgestation allowing therapeutic pregnancy termination.
- Published
- 2023
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