Pichurin, Pavel
Mayo Clinic
Department of Clinical Genomics (F.P.e.V., L.L., P.N.P., E.W.K.), Mayo Clinic, Rochester, MN.
Citations 2
Mucopolysaccharidosis Type IIIA Presenting as Hypertrophic Cardiomyopathy
Geske, Jeffrey B. , Dyer, Roy B. , Siontis, Konstantinos C. , Schmitz, Christopher T., Lambert, Laura , Clark, Karl J. , Raymond, Kimiyo , Maleszewski, Joseph J. , Wood, Timothy C. , Pichurin, Pavel N. , Klee, Eric W. , Pereira, Naveen L. , Vairo, Filippo , Geske, Jeffrey B , Dyer, Roy B , Siontis, Konstantinos C , O'Connell, Maria, Schmitz, Christopher , Lambert, Laura , Clark, Karl J , Raymond, Kimiyo M, Maleszewski, Joseph J , Wood, Tim , Pichurin, Pavel , Pereira, Naveen L , Vairo, Filippo Pinto e , Singh, Ravinder , O’Connell, Maria
Circulation: Heart Failure | March 31, 2025 | Volume: 18 | Issue: 7 | Pages: No page available
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation
Conboy, Erin , Waggoner, Darrel, Das, Soma , Klee, Eric W. , Pichurin, Pavel N. , Vairo, Filippo, Pichurin, Pavel , Vairo, Filippo Pinto e , Ober, Carole , Dhamija, Radhika
Case Reports in Genetics | April 12, 2017 | Volume: 2017 | Issue: No issue available | Pages: 1-4
ACTB encodes the β-actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies. Here, we describe the third case with the p.Arg183Trp variant in ACTB causing juvenile-onset dystonia. Our patient has severe, intractable dystonia, developmental delay, and sensorineural hearing loss, besides hyperintensities in the caudate nuclei and putamen on the brain MRI, which is a distinct but overlapping phenotype with the previously reported case of identical twins with the same alteration in ACTB.