Your browser doesn't support javascript.
loading
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
Brooks, Daniel; Burke, Elizabeth; Lee, Sukyeong; Eble, Tanya N; O'Leary, Melanie; Osei-Owusu, Ikeoluwa; Rehm, Heidi L; Dhar, Shweta U; Emrick, Lisa; Bick, David; Nehrebecky, Michelle; Macnamara, Ellen; Casas-Alba, Dídac; Armstrong, Judith; Prat, Carolina; Martínez-Monseny, Antonio F; Palau, Francesc; Liu, Pengfei; Adams, David; Lalani, Seema; Rosenfeld, Jill A; Burrage, Lindsay C.
Afiliación
  • Brooks D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Burke E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.
  • Lee S; Verna and Marrs McLean Department of Biochemistry and Molecular Pharmacology, Baylor College of Medicine, Houston, TX, USA.
  • Eble TN; Advanced Technology Core for Macromolecular X-Ray Crystallography, Baylor College of Medicine, Houston, TX, USA.
  • O'Leary M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Dhar SU; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Emrick L; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Bick D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Nehrebecky M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Macnamara E; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA.
  • Casas-Alba D; Texas Children's Hospital, Houston, TX, USA.
  • Armstrong J; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA.
  • Prat C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.
  • Martínez-Monseny AF; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.
  • Palau F; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.
  • Liu P; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.
  • Adams D; Department of Dermatology, Hospital Sant Joan de Deu, Esplugues de Llobregat, 08950, Barcelona, Spain.
  • Lalani S; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.
  • Rosenfeld JA; Division of Pediatrics, University of Barcelona School of Medicine and Health Sciences, Barcelona, Spain.
  • Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Hum Genet ; 143(3): 279-291, 2024 Mar.
Article en En | MEDLINE | ID: mdl-38451290
ABSTRACT
Biallelic pathogenic variants in MAP3K20, which encodes a mitogen-activated protein kinase, are a rare cause of split-hand foot malformation (SHFM), hearing loss, and nail abnormalities or congenital myopathy. However, heterozygous variants in this gene have not been definitively associated with a phenotype. Here, we describe the phenotypic spectrum associated with heterozygous de novo variants in the linker region between the kinase domain and leucine zipper domain of MAP3K20. We report five individuals with diverse clinical features, including craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have heterozygous de novo variants in this specific region of the gene. These individuals exhibit both shared and unique clinical manifestations, highlighting the complexity and variability of the disorder. We propose that the involvement of MAP3K20 in endothelial-mesenchymal transition provides a plausible etiology of these features. Together, these findings characterize a disorder that both expands the phenotypic spectrum associated with MAP3K20 and highlights the need for further studies on its role in early human development.
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Craneosinostosis / Pérdida Auditiva Sensorineural / Heterocigoto Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Genet Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Craneosinostosis / Pérdida Auditiva Sensorineural / Heterocigoto Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Genet Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Alemania