A rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome)

A rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome)

PACS1 neurodevelopmental disorder (Schuurs-Hoeijmakers syndrome; MIM #615009) is a rare autosomal dominant genetic syndrome characterized by developmental delay, intellectual disability, dysmorphic features, and rare seizures. The article describes a clinical case of PACS1 syndrome in a female patie...

Full description

Saved in:
Bibliographic Details
Main Authors: T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, A. D. Mikhailova, A. I. Krapivkin, N. N. Zavadenko
Format: Article
Language:Russian
Published: IRBIS LLC 2024-07-01
Series:Эпилепсия и пароксизмальные состояния
Subjects:
schuurs-hoeijmakers syndrome
developmental delay
epilepsy
<i>pacs1</i> gene
exome sequencing
Online Access:https://www.epilepsia.su/jour/article/view/1047
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:PACS1 neurodevelopmental disorder (Schuurs-Hoeijmakers syndrome; MIM #615009) is a rare autosomal dominant genetic syndrome characterized by developmental delay, intellectual disability, dysmorphic features, and rare seizures. The article describes a clinical case of PACS1 syndrome in a female patient with developmental delay, speech disorder, motor development delay and epilepsy coupled to described variants in PACS1 gene (rs398123009, chr11:6621120, c.607C&gt;T, p.Arg203Trp). Knowing PACS1 syndrome molecular mechanisms is important not only for genotype-phenotypic correlation, but also for developing new therapeutic approaches that could improve the quality of patients’ life.
ISSN:2077-8333
2311-4088

Similar Items