Nabais Sa-de Vries syndrome in a Chinese infant associated with a novel SPOP mutation: A clinical study and genetic report.

ABSTRACT:

Background

Nabais Sa-de Vries syndrome (NSDVS) is a newly identified neurodevelopmental disorder (NDD), characterized by mutations in the SPOP gene, which encodes the speckle-type BTB/POZ protein. It is divided into two disease subtypes, according to patient facial features, which could be related to altered SPOP protein function. Few studies have documented this syndrome and little is known about its pathophysiology. Herein, we present an unexplained infant case of NDD, possibly the first Asian NSDVS case report.

Methods

A 7-month-old boy presented with an enlarged head circumference, widened eye distance, and a protruding nose. Trio-whole exome sequencing of the patient's family was performed, and a variant was identified by bioinformatics analysis and further verified by

SUBMITTER: Hu W 

PROVIDER: S-EPMC9747555 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature