A rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome)-Reference-Cited by-同舟云学术

A rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome)

Published:2024-06-30 Issue:2 Volume:16 Page:120-129
ISSN:2311-4088
Container-title:Epilepsy and paroxysmal conditions
language:
Short-container-title:Èpilepsiâ paroksizmalʹnye sostoâ.

Author:

Kozhanova T. V.¹^ORCID,Zhilina S. S.¹^ORCID,Meshcheryakova T. I.¹^ORCID,Mikhailova A. D.²,Krapivkin A. I.²^ORCID,Zavadenko N. N.³^ORCID

Affiliation:

1. Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children; Pirogov Russian National Research Medical University

2. Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children

3. Pirogov Russian National Research Medical University

Abstract

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.

Publisher

IRBIS

Reference29 articles.

1. Van Nuland A., Reddy T., Quassem F., et al. PACS1-neurodevelopmental disorder: clinical features and trial readiness. Orphanet J Rare Dis. 2021; 16 (1): 386. https://doi.org/10.1186/s13023-021-02001-1.

2. Schuurs-Hoeijmakers J.H.M., Landsverk M.L., Foulds N., et al. Clinical delineation of the PACS1-related syndrome – report on 19 patients. Am J Med Genet A. 2016; 170 (3): 670–5. https://doi.org/10.1002/ajmg.a.37476.

3. Schuurs-Hoeijmakers J.H.M., Oh E.C., Vissers L.E.L.M., et al. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectualdisability syndrome. Am J Hum Genet. 2012; 91 (6): 1122–7. https://doi.org/10.1016/j.ajhg.2012.10.013.

4. Lusk L., Smith S., Martin C., et al. PACS1 neurodevelopmental disorder. In: Adam M.P., Feldman J., Mirzaa G.M., et al. (Eds.) GeneReviews®. Seattle (WA): University of Washington, Seattle; 2020.

5. Arnedo M., Ascaso Á., Latorre-Pellicer A., et al. Molecular basis of the Schuurs-Hoeijmakers syndrome: what we know about the gene and the PACS-1 protein and novel therapeutic approaches. Int J Mol Sci. 2022; 23 (17): 9649. https://doi.org/10.3390/ijms23179649.