Your browser doesn't support javascript.
loading
Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution.
Alshammari, Muneera J; Shamseldin, Hanan E; Essbaiheen, Fahad; Eltahir, Sara H; Alruwaili, Ashwag R; Abdulwahab, Firdous; Alkuraya, Fowzan S.
Afiliação
  • Alshammari MJ; Department of Pediatrics, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
  • Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Essbaiheen F; Department of Diagnostic Imaging, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Eltahir SH; Department of Pediatrics, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
  • Alruwaili AR; Radiological Sciences Department, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.
  • Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.
Hum Genet ; 143(1): 59-69, 2024 Jan.
Article em En | MEDLINE | ID: mdl-38180561
ABSTRACT
Perinatal stroke is associated with significant short- and long-term morbidity and has been recognized as the most common cause of cerebral palsy in term infants. The diagnosis of presumed perinatal stroke (PPS) is made in children who present with neurological deficit and/or seizures attributable to focal chronic infarction on neuroimaging and have uneventful neonatal history. The underlying mechanism of presumed perinatal stroke remains unknown and thorough investigation of potential monogenic causes has not been conducted to date. Here, we describe the use of untargeted exome sequencing to investigate a cohort of eight patients from six families with PPS. A likely deleterious variant was identified in four families. These include the well-established risk genes COL4A2 and JAM3. In addition, we report the first independent confirmation of the recently described link between ESAM and perinatal stroke. Our data also highlight NID1 as a candidate gene for the condition. This study suggests that monogenic disorders are important contributors to the pathogenesis of PPS and should be investigated by untargeted sequencing especially when traditional risk factors are excluded.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acidente Vascular Cerebral Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Infant / Newborn / Pregnancy País/Região como assunto: Asia Idioma: En Revista: Hum Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Arábia Saudita

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acidente Vascular Cerebral Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Infant / Newborn / Pregnancy País/Região como assunto: Asia Idioma: En Revista: Hum Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Arábia Saudita