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A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.
Palma Milla, Carmen; Patricia, Pérez Mohand; Lezana, José M; Cruz, Jaime; Quesada, Juan F; Vila, Sara; Álvarez-Mora, Isabel; Arteche-López, Ana; Gómez-Manjón, Irene; Sánchez, M Teresa; Gómez-Rodríguez, Maria José; Sánchez, Jaime; Moreno-García, Marta.
Afiliação
  • Palma Milla C; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Patricia PM; Department of Pediatric Endocrinology, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Lezana JM; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Cruz J; Department of Pediatric Endocrinology, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Quesada JF; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Vila S; Department of Pediatric Neurology, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Álvarez-Mora I; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Arteche-López A; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Gómez-Manjón I; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Sánchez MT; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Gómez-Rodríguez MJ; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Sánchez J; Department of Pediatric Endocrinology, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Moreno-García M; Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
J Pediatr Genet ; 12(3): 254-257, 2023 Sep.
Article em En | MEDLINE | ID: mdl-37575653
ABSTRACT
Meningioma-1 is a transcription activator that regulates mammalian palate development and is required for appropriate osteoblast proliferation, motility, differentiation, and function. Microdeletions involving the MN1 gene have been linked to syndromes including craniofacial anomalies, such as Toriello-Carey syndrome. Recently, truncating variants in the C-terminal portion of the MN1 transcriptional factor have been linked to a characteristic and distinct phenotype presenting with craniofacial anomalies and partial rhombencephalosynapsis, a rare brain malformation characterized by midline fusion of the cerebellar hemispheres with partial or complete loss of the cerebellar vermis. It has been called MN1 C-terminal truncation (MCTT) syndrome or CEBALID (Craniofacial defects, dysmorphic Ears, Brain Abnormalities, Language delay, and Intellectual Disability) and suggested to be caused by dominantly acting truncated protein MN1 instead of haploinsufficiency. As a proto-oncogene, MN1 is also involved in familial meningioma. In this study, we present a novel case of MCTT syndrome in a female patient presenting with craniofacial anomalies and rhombencephalosynapsis, harboring a de novo pathogenic variant in the MN1 gene c.3686_3698del, p.(Met1229Argfs*87).
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: J Pediatr Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha

Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: J Pediatr Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha