A rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome)

• Published in: Èpilepsiâ i paroksizmalʹnye sostoâniâ (Online) Vol. 16; no. 2; pp. 120 - 129
• Main Authors: Kozhanova, T. V., Zhilina, S. S., Meshcheryakova, T. I., Mikhailova, A. D., Krapivkin, A. I., Zavadenko, N. N.
• Format: Journal Article
• Language: English; Russian
• Published: IRBIS LLC 01-07-2024
• Subjects: developmental delay; epilepsy; exome sequencing; pacs1 gene; schuurs-hoeijmakers syndrome
• ISSN: 2077-8333; 2311-4088
• DOI: 10.17749/2077-8333/epi.par.con.2024.183

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>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.