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Article

Clinical Insights Into Nabais Sá-De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features.

American journal of medical genetics. Part A - 1 Jun 2025

Galli Jessica, Loi Erika, Zanardini Federica, Baldoni Giovanna, Novara Francesca, Panigada Serena, Ciccone Roberto, Cutrì Maria Rosa, Bertoletti Alice, Pinelli Lorenzo, Fazzi Elisa

Abstract excerpt

Nabais Sá-De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features. In this article, we report a new case of NSDVS involving a novel pathogenic variant of the SPOP gene. We describe the patient's motor,...

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Identifiers

PMID: 39918173
DOI: 10.1002/ajmg.a.64007

Genes

SPOP

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