Expansion of the mutation spectrum and phenotype of USP7-related neurodevelopmental disorder.

ABSTRACT:

Background

Hao-fountain syndrome (HAFOUS) is a neurodevelopmental syndrome characterized by global developmental and severe language delays, behavioral abnormalities (including autism), and mild dysmorphic impairment of intellectual development. It is a dominant genetic disease caused by USP7 gene (*602519) mutations on chromosome 16p13.2. So far, only 15 cases with 14 deleterious variants in the USP7 gene have been reported.

Materials and methods

This study describes three unrelated patients with USP7 variants. Besides, we identified novel de novo heterozygous USP7 variants using trio-whole exome sequencing and verified by Sanger sequencing. Furthermore, clinical characteristics were evaluated by reviewing the medical records.

Results</

SUBMITTER: Zheng H 

PROVIDER: S-EPMC9708884 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature