> Detailanzeige

Strong, Alanna; Behr, Meckenzie; Lott, Carina; Clark, Abigail J.; Mentch, Frank; Da Silva, Renata Pellegrino; Rux, Danielle R.; Campbell, Robert; Skraban, Cara; Wang, Xiang; Anari, Jason B.; Sinder, Benjamin; Cahill, Patrick J.; Sleiman, Patrick; Hakonarson, Hakon

Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort

Literatur-
verwaltung

Zur
Merkliste

Lösche von
Merkliste

Per Whatsapp teilen

Schließen

Merkliste



Sie können Bookmarks mittels Listen verwalten, loggen Sie sich dafür bitte in Ihr SLUB Benutzerkonto ein.
  • Medientyp: E-Artikel
  • Titel: Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort
  • Beteiligte: Strong, Alanna; Behr, Meckenzie; Lott, Carina; Clark, Abigail J.; Mentch, Frank; Da Silva, Renata Pellegrino; Rux, Danielle R.; Campbell, Robert; Skraban, Cara; Wang, Xiang; Anari, Jason B.; Sinder, Benjamin; Cahill, Patrick J.; Sleiman, Patrick; Hakonarson, Hakon
  • Erschienen: Springer Science and Business Media LLC, 2023
  • Erschienen in: Scientific Reports
  • Sprache: Englisch
  • DOI: 10.1038/s41598-023-27641-0
  • ISSN: 2045-2322
  • Schlagwörter: Multidisciplinary
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Thoracic insufficiency syndromes are a genetically and phenotypically heterogeneous group of disorders characterized by congenital abnormalities or progressive deformation of the chest wall and/or vertebrae that result in restrictive lung disease and compromised respiratory capacity. We performed whole exome sequencing on a cohort of 42 children with thoracic insufficiency to elucidate the underlying molecular etiologies of syndromic and non-syndromic thoracic insufficiency and predict extra-skeletal manifestations and disease progression. Molecular diagnosis was established in 24/42 probands (57%), with 18/24 (75%) probands having definitive diagnoses as defined by laboratory and clinical criteria and 6/24 (25%) probands having strong candidate genes. Gene identified in cohort patients most commonly encoded components of the primary cilium, connective tissue, and extracellular matrix. A novel association between <jats:italic>KIF7</jats:italic> and <jats:italic>USP9X</jats:italic> variants and thoracic insufficiency was identified. We report and expand the genetic and phenotypic spectrum of a cohort of children with thoracic insufficiency, reinforce the prevalence of extra-skeletal manifestations in thoracic insufficiency syndromes, and expand the phenotype of <jats:italic>KIF7</jats:italic> and <jats:italic>USP9X</jats:italic>-related disease to include thoracic insufficiency.</jats:p>
  • Zugangsstatus: Freier Zugang