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Clinical and molecular spectra of BRAF-associated RASopathy.
Lee, Yena; Choi, Yunha; Seo, Go Hun; Kim, Gu-Hwan; Choi, In Hee; Keum, Changwon; Ko, Jung Min; Cheon, Chong Kun; Jeon, Jihyun; Choi, Jin-Ho; Yoo, Han-Wook; Lee, Beom Hee.
Afiliación
  • Lee Y; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
  • Choi Y; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
  • Seo GH; 3billion Inc., Seoul, South Korea.
  • Kim GH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
  • Choi IH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
  • Keum C; 3billion Inc., Seoul, South Korea.
  • Ko JM; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.
  • Cheon CK; Department of Pediatrics, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea.
  • Jeon J; Department of Pediatrics, CHA Gangnam Medical Center, CHA University School of Medicine, Seoul, South Korea.
  • Choi JH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
  • Yoo HW; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
  • Lee BH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
J Hum Genet ; 66(4): 389-399, 2021 Apr.
Article en En | MEDLINE | ID: mdl-33040082
Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are the most common subtypes of RASopathy. As an effector of Ras, BRAF is one of the molecules responsible for RASopathy. We investigated the phenotypic and genotypic features of 26 patients with BRAF-associated RASopathy. The clinical diagnoses were CFC (n = 21, 80.8%), NS (n = 3, 11.5%), NS/CFC (n = 1, 3.8%), and undefined syndromic intellectual disability (ID) (n = 1, 3.8%). The mostly shared phenotypes were ID (90.5%), cutaneous manifestations (84.6%), congenital heart defects (76.9%), short stature (76.9%), and dysmorphic features such as short neck (65.4%) and low-set ears (65.4%). Importantly, moderate to severe ID (57.1%) and epilepsy (26.9%) were noted. Eighteen different missense mutations were found, including a novel mutation, p.Phe498Tyr. p.Gln257Arg (n = 9, 34.6%) was the most common mutation, and the mutations were clustered in the cysteine-rich domain or protein kinase domain. A review of previously reported cases along with our findings revealed the existence of multiple sub-phenotypes of RASopathy within a single genotype, indicating that BRAF-associated RASopathy is not variant-specific. Our study further delineated the diverse and expanded clinical phenotypes of BRAF-associated RASopathy with their molecular genetic characteristics.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Proteínas Proto-Oncogénicas B-raf / Insuficiencia de Crecimiento / Cardiopatías Congénitas / Mutación / Síndrome de Noonan Tipo de estudio: Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Corea del Sur

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Proteínas Proto-Oncogénicas B-raf / Insuficiencia de Crecimiento / Cardiopatías Congénitas / Mutación / Síndrome de Noonan Tipo de estudio: Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Corea del Sur
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