Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features.

Autor: Hume E; Sección de Genética y Errores Congénitos del Metabolismo, División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile., Cossio ML; Department of Dermatology, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile., Vargas P; Centro de Investigación e Innovación Materno Fetal, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile.; División de Obstetricia y Ginecología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile., Cubillos MP; Servicio de Neonatología, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile., Maccioni A; Servicio de Neonatología, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile.; Departamento de Neonatología, División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile., Lay-Son G; Sección de Genética y Errores Congénitos del Metabolismo, División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.; Unidad de Genética, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63711. Date of Electronic Publication: 2024 Jun 27.
DOI: 10.1002/ajmg.a.63711
Abstrakt: RASopathies encompass a diverse set of disorders affecting genes that encode proteins within the RAS-MAPK pathway. RASA1 mutations are the cause of an autosomal dominant disorder called capillary malformation-arteriovenous malformation type 1 (CM-AVM1). Unlike other RASopathies, facial dysmorphism has not been described in these patients. We phenotypically delineated a large family of individuals with multifocal fast-flow capillary malformations, severe lymphatic anomalies of perinatal onset, and dysmorphic features not previously described. Sequencing studies were performed on probands and related family members, confirming the segregation of dysmorphic features in affected members of a novel heterozygous variant in RASA1 (NM_002890.3:c.2366G>A, p.(Arg789Gln)). In this work, we broaden the phenotypic spectrum of CM-AVM type 1 and propose a new RASA1 variant as likely pathogenic.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
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