Article
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.
Molecular genetics & genomic medicine - 1 Aug 2020
Traversa Alice, Marchionni Enrica, Giovannetti Agnese, Genovesi Maria L, Panzironi Noemi, Margiotti Katia, Napoli Giulia, Piceci Sparascio Francesca, De Luca Alessandro, Petrizzelli Francesco, Carella Massimo, Cardona Francesco, Bernardo Silvia, Manganaro Lucia, Mazza Tommaso, Pizzuti Antonio, Caputo Viviana
Abstract excerpt
BACKGROUND: Corpus callosum agenesis (ACC) is one of the most frequent Central Nervous System (CNS) malformations. However, genetics underlying isolated forms is still poorly recognized. Here, we report on two female familial cases with partial ACC. The proband shows isolated partial ACC and a mild neurodevelopmental phenotype. A fetus from a previous interrupted pregnancy exhibited a complex phenotype including...
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